Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.123352464G>A | CA347787 | ADCY5 | c.-72C>T (n.-72C>T) c.217C>T (p.Arg73Trp) c.1252C>T (p.Arg418Trp) c.202C>T (p.Arg68Trp) n.547C>T c.156C>T (p.Arg52=) c.151C>T (p.Arg51Trp) c.253C>T (p.Arg85Trp) c.163C>T (p.Arg55Trp) c.154C>T (p.Arg52Trp) | ClinVar dbSNP |
3 | g.123352464G>C | CA354222550 | ADCY5 | c.-72C>G (n.-72C>G) c.217C>G (p.Arg73Gly) c.1252C>G (p.Arg418Gly) c.202C>G (p.Arg68Gly) n.547C>G c.156C>G (p.Arg52=) c.151C>G (p.Arg51Gly) c.253C>G (p.Arg85Gly) c.163C>G (p.Arg55Gly) c.154C>G (p.Arg52Gly) | ClinVar |
3 | g.123352464G= | CA1398358757 | ADCY5 | c.-72C= (n.-72C=) c.217C= (p.Arg73=) c.1252C= (p.Arg418=) c.202C= (p.Arg68=) n.547C= c.156C= (p.Arg52=) c.151C= (p.Arg51=) c.253C= (p.Arg85=) c.163C= (p.Arg55=) c.154C= (p.Arg52=) | |
3 | g.123352464G>T | CA435296441 | ADCY5 | c.-72C>A (n.-72C>A) c.217C>A (p.Arg73=) c.1252C>A (p.Arg418=) c.202C>A (p.Arg68=) n.547C>A c.156C>A (p.Arg52=) c.151C>A (p.Arg51=) c.253C>A (p.Arg85=) c.163C>A (p.Arg55=) c.154C>A (p.Arg52=) | |
3 | g.123352465C>A | CA435296442 | ADCY5 | c.-73G>T (n.-73G>T) c.216G>T (p.Ala72=) c.1251G>T (p.Ala417=) c.201G>T (p.Ala67=) n.546G>T c.155G>T (p.Arg52Leu) c.150G>T (p.Ala50=) c.252G>T (p.Ala84=) c.162G>T (p.Ala54=) c.153G>T (p.Ala51=) | |
3 | g.123352465C= | CA1398358758 | ADCY5 | c.-73G= (n.-73G=) c.216G= (p.Ala72=) c.1251G= (p.Ala417=) c.201G= (p.Ala67=) n.546G= c.155G= (p.Arg52=) c.150G= (p.Ala50=) c.252G= (p.Ala84=) c.162G= (p.Ala54=) c.153G= (p.Ala51=) | |
3 | g.123352465C>G | CA435296443 | ADCY5 | c.-73G>C (n.-73G>C) c.216G>C (p.Ala72=) c.1251G>C (p.Ala417=) c.201G>C (p.Ala67=) n.546G>C c.155G>C (p.Arg52Pro) c.150G>C (p.Ala50=) c.252G>C (p.Ala84=) c.162G>C (p.Ala54=) c.153G>C (p.Ala51=) | |
3 | g.123352465C>T | CA82918283 | ADCY5 | c.-73G>A (n.-73G>A) c.216G>A (p.Ala72=) c.1251G>A (p.Ala417=) c.201G>A (p.Ala67=) n.546G>A c.155G>A (p.Arg52His) c.150G>A (p.Ala50=) c.252G>A (p.Ala84=) c.162G>A (p.Ala54=) c.153G>A (p.Ala51=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.123352466G>A | CA354222551 | ADCY5 | c.-74C>T (n.-74C>T) c.215C>T (p.Ala72Val) c.1250C>T (p.Ala417Val) c.200C>T (p.Ala67Val) n.545C>T c.154C>T (p.Arg52Cys) c.149C>T (p.Ala50Val) c.251C>T (p.Ala84Val) c.161C>T (p.Ala54Val) c.152C>T (p.Ala51Val) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.123352466G>C | CA354222552 | ADCY5 | c.-74C>G (n.-74C>G) c.215C>G (p.Ala72Gly) c.1250C>G (p.Ala417Gly) c.200C>G (p.Ala67Gly) n.545C>G c.154C>G (p.Arg52Gly) c.149C>G (p.Ala50Gly) c.251C>G (p.Ala84Gly) c.161C>G (p.Ala54Gly) c.152C>G (p.Ala51Gly) | |
3 | g.123352466G= | CA1398358759 | ADCY5 | c.-74C= (n.-74C=) c.215C= (p.Ala72=) c.1250C= (p.Ala417=) c.200C= (p.Ala67=) n.545C= c.154C= (p.Arg52=) c.149C= (p.Ala50=) c.251C= (p.Ala84=) c.161C= (p.Ala54=) c.152C= (p.Ala51=) | |
3 | g.123352466G>T | CA354222553 | ADCY5 | c.-74C>A (n.-74C>A) c.215C>A (p.Ala72Glu) c.1250C>A (p.Ala417Glu) c.200C>A (p.Ala67Glu) n.545C>A c.154C>A (p.Arg52Ser) c.149C>A (p.Ala50Glu) c.251C>A (p.Ala84Glu) c.161C>A (p.Ala54Glu) c.152C>A (p.Ala51Glu) | |
3 | g.123352467C>A | CA354222554 | ADCY5 | c.-75G>T (n.-75G>T) c.214G>T (p.Ala72Ser) c.1249G>T (p.Ala417Ser) c.199G>T (p.Ala67Ser) n.544G>T c.153G>T (p.Arg51Ser) c.148G>T (p.Ala50Ser) c.250G>T (p.Ala84Ser) c.160G>T (p.Ala54Ser) c.151G>T (p.Ala51Ser) | dbSNP |
3 | g.123352467C= | CA1398358760 | ADCY5 | c.-75G= (n.-75G=) c.214G= (p.Ala72=) c.1249G= (p.Ala417=) c.199G= (p.Ala67=) n.544G= c.153G= (p.Arg51=) c.148G= (p.Ala50=) c.250G= (p.Ala84=) c.160G= (p.Ala54=) c.151G= (p.Ala51=) | |
3 | g.123352467C>G | CA354222555 | ADCY5 | c.-75G>C (n.-75G>C) c.214G>C (p.Ala72Pro) c.1249G>C (p.Ala417Pro) c.199G>C (p.Ala67Pro) n.544G>C c.153G>C (p.Arg51Ser) c.148G>C (p.Ala50Pro) c.250G>C (p.Ala84Pro) c.160G>C (p.Ala54Pro) c.151G>C (p.Ala51Pro) | |
3 | g.123352467C>T | CA2577522 | ADCY5 | c.-75G>A (n.-75G>A) c.214G>A (p.Ala72Thr) c.1249G>A (p.Ala417Thr) c.199G>A (p.Ala67Thr) n.544G>A c.153G>A (p.Arg51=) c.148G>A (p.Ala50Thr) c.250G>A (p.Ala84Thr) c.160G>A (p.Ala54Thr) c.151G>A (p.Ala51Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123352468C>A | CA354222556 | ADCY5 | c.-76G>T (n.-76G>T) c.213G>T (p.Gln71His) c.1248G>T (p.Gln416His) c.198G>T (p.Gln66His) n.543G>T c.152G>T (p.Arg51Met) c.147G>T (p.Gln49His) c.249G>T (p.Gln83His) c.159G>T (p.Gln53His) c.150G>T (p.Gln50His) | |
3 | g.123352468C= | CA1398358761 | ADCY5 | c.-76G= (n.-76G=) c.213G= (p.Gln71=) c.1248G= (p.Gln416=) c.198G= (p.Gln66=) n.543G= c.152G= (p.Arg51=) c.147G= (p.Gln49=) c.249G= (p.Gln83=) c.159G= (p.Gln53=) c.150G= (p.Gln50=) | |
3 | g.123352468C>G | CA354222557 | ADCY5 | c.-76G>C (n.-76G>C) c.213G>C (p.Gln71His) c.1248G>C (p.Gln416His) c.198G>C (p.Gln66His) n.543G>C c.152G>C (p.Arg51Thr) c.147G>C (p.Gln49His) c.249G>C (p.Gln83His) c.159G>C (p.Gln53His) c.150G>C (p.Gln50His) | |
3 | g.123352468C>T | CA2577523 | ADCY5 | c.-76G>A (n.-76G>A) c.213G>A (p.Gln71=) c.1248G>A (p.Gln416=) c.198G>A (p.Gln66=) n.543G>A c.152G>A (p.Arg51Lys) c.147G>A (p.Gln49=) c.249G>A (p.Gln83=) c.159G>A (p.Gln53=) c.150G>A (p.Gln50=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123352469T>A | CA354222558 | ADCY5 | c.-77A>T (n.-77A>T) c.212A>T (p.Gln71Leu) c.1247A>T (p.Gln416Leu) c.197A>T (p.Gln66Leu) n.542A>T c.151A>T (p.Arg51Trp) c.146A>T (p.Gln49Leu) c.248A>T (p.Gln83Leu) c.158A>T (p.Gln53Leu) c.149A>T (p.Gln50Leu) | |
3 | g.123352469T>C | CA354222559 | ADCY5 | c.-77A>G (n.-77A>G) c.212A>G (p.Gln71Arg) c.1247A>G (p.Gln416Arg) c.197A>G (p.Gln66Arg) n.542A>G c.151A>G (p.Arg51Gly) c.146A>G (p.Gln49Arg) c.248A>G (p.Gln83Arg) c.158A>G (p.Gln53Arg) c.149A>G (p.Gln50Arg) | |
3 | g.123352469T>G | CA354222560 | ADCY5 | c.-77A>C (n.-77A>C) c.212A>C (p.Gln71Pro) c.1247A>C (p.Gln416Pro) c.197A>C (p.Gln66Pro) n.542A>C c.151A>C (p.Arg51=) c.146A>C (p.Gln49Pro) c.248A>C (p.Gln83Pro) c.158A>C (p.Gln53Pro) c.149A>C (p.Gln50Pro) | |
3 | g.123352470G>A | CA354222561 | ADCY5 | c.-78C>T (n.-78C>T) c.211C>T (p.Gln71Ter) c.1246C>T (p.Gln416Ter) c.196C>T (p.Gln66Ter) n.541C>T c.150C>T (p.Ser50=) c.145C>T (p.Gln49Ter) c.247C>T (p.Gln83Ter) c.157C>T (p.Gln53Ter) c.148C>T (p.Gln50Ter) | dbSNP COSMIC |
3 | g.123352470G>C | CA354222562 | ADCY5 | c.-78C>G (n.-78C>G) c.211C>G (p.Gln71Glu) c.1246C>G (p.Gln416Glu) c.196C>G (p.Gln66Glu) n.541C>G c.150C>G (p.Ser50=) c.145C>G (p.Gln49Glu) c.247C>G (p.Gln83Glu) c.157C>G (p.Gln53Glu) c.148C>G (p.Gln50Glu) | ClinVar dbSNP gnomAD v4 |
3 | g.123352470G= | CA1398358762 | ADCY5 | c.-78C= (n.-78C=) c.211C= (p.Gln71=) c.1246C= (p.Gln416=) c.196C= (p.Gln66=) n.541C= c.150C= (p.Ser50=) c.145C= (p.Gln49=) c.247C= (p.Gln83=) c.157C= (p.Gln53=) c.148C= (p.Gln50=) | |
3 | g.123352470G>T | CA354222563 | ADCY5 | c.-78C>A (n.-78C>A) c.211C>A (p.Gln71Lys) c.1246C>A (p.Gln416Lys) c.196C>A (p.Gln66Lys) n.541C>A c.150C>A (p.Ser50=) c.145C>A (p.Gln49Lys) c.247C>A (p.Gln83Lys) c.157C>A (p.Gln53Lys) c.148C>A (p.Gln50Lys) | |
3 | g.123352471G>A | CA435296444 | ADCY5 | c.-79C>T (n.-79C>T) c.210C>T (p.Ile70=) c.1245C>T (p.Ile415=) c.195C>T (p.Ile65=) n.540C>T c.149C>T (p.Ser50Phe) c.144C>T (p.Ile48=) c.246C>T (p.Ile82=) c.156C>T (p.Ile52=) c.147C>T (p.Ile49=) | |
3 | g.123352471G>C | CA354222564 | ADCY5 | c.-79C>G (n.-79C>G) c.210C>G (p.Ile70Met) c.1245C>G (p.Ile415Met) c.195C>G (p.Ile65Met) n.540C>G c.149C>G (p.Ser50Cys) c.144C>G (p.Ile48Met) c.246C>G (p.Ile82Met) c.156C>G (p.Ile52Met) c.147C>G (p.Ile49Met) | |
3 | g.123352471G>T | CA435296445 | ADCY5 | c.-79C>A (n.-79C>A) c.210C>A (p.Ile70=) c.1245C>A (p.Ile415=) c.195C>A (p.Ile65=) n.540C>A c.149C>A (p.Ser50Tyr) c.144C>A (p.Ile48=) c.246C>A (p.Ile82=) c.156C>A (p.Ile52=) c.147C>A (p.Ile49=) | |
3 | g.123352472A>C | CA354222565 | ADCY5 | c.-80T>G (n.-80T>G) c.209T>G (p.Ile70Ser) c.1244T>G (p.Ile415Ser) c.194T>G (p.Ile65Ser) n.539T>G c.148T>G (p.Ser50Ala) c.143T>G (p.Ile48Ser) c.245T>G (p.Ile82Ser) c.155T>G (p.Ile52Ser) c.146T>G (p.Ile49Ser) | |
3 | g.123352472A>G | CA354222566 | ADCY5 | c.-80T>C (n.-80T>C) c.209T>C (p.Ile70Thr) c.1244T>C (p.Ile415Thr) c.194T>C (p.Ile65Thr) n.539T>C c.148T>C (p.Ser50Pro) c.143T>C (p.Ile48Thr) c.245T>C (p.Ile82Thr) c.155T>C (p.Ile52Thr) c.146T>C (p.Ile49Thr) | |
3 | g.123352472A>T | CA354222567 | ADCY5 | c.-80T>A (n.-80T>A) c.209T>A (p.Ile70Asn) c.1244T>A (p.Ile415Asn) c.194T>A (p.Ile65Asn) n.539T>A c.148T>A (p.Ser50Thr) c.143T>A (p.Ile48Asn) c.245T>A (p.Ile82Asn) c.155T>A (p.Ile52Asn) c.146T>A (p.Ile49Asn) | |
3 | g.123352472_123352473insATGC | CA645532309 | ADCY5 | c.-81_-80insGCAT (n.-81_-80insGCAT) c.208_209insGCAT (p.Ile70SerfsTer?) c.1243_1244insGCAT (p.Ile415SerfsTer?) c.193_194insGCAT (p.Ile65SerfsTer?) n.538_539insGCAT c.147_148insGCAT (p.Ser50AlafsTer?) c.142_143insGCAT (p.Ile48SerfsTer?) c.244_245insGCAT (p.Ile82SerfsTer?) c.154_155insGCAT (p.Ile52SerfsTer?) c.145_146insGCAT (p.Ile49SerfsTer?) | COSMIC |
3 | g.123352473T>A | CA354222568 | ADCY5 | c.-81A>T (n.-81A>T) c.208A>T (p.Ile70Phe) c.1243A>T (p.Ile415Phe) c.193A>T (p.Ile65Phe) n.538A>T c.147A>T (p.Ala49=) c.142A>T (p.Ile48Phe) c.244A>T (p.Ile82Phe) c.154A>T (p.Ile52Phe) c.145A>T (p.Ile49Phe) | |
3 | g.123352473T>C | CA354222570 | ADCY5 | c.-81A>G (n.-81A>G) c.208A>G (p.Ile70Val) c.1243A>G (p.Ile415Val) c.193A>G (p.Ile65Val) n.538A>G c.147A>G (p.Ala49=) c.142A>G (p.Ile48Val) c.244A>G (p.Ile82Val) c.154A>G (p.Ile52Val) c.145A>G (p.Ile49Val) | |
3 | g.123352473T>G | CA354222569 | ADCY5 | c.-81A>C (n.-81A>C) c.208A>C (p.Ile70Leu) c.1243A>C (p.Ile415Leu) c.193A>C (p.Ile65Leu) n.538A>C c.147A>C (p.Ala49=) c.142A>C (p.Ile48Leu) c.244A>C (p.Ile82Leu) c.154A>C (p.Ile52Leu) c.145A>C (p.Ile49Leu) | |
3 | g.123352474G>A | CA435296446 | ADCY5 | c.-82C>T (n.-82C>T) c.207C>T (p.Cys69=) c.1242C>T (p.Cys414=) c.192C>T (p.Cys64=) n.537C>T c.146C>T (p.Ala49Val) c.141C>T (p.Cys47=) c.243C>T (p.Cys81=) c.153C>T (p.Cys51=) c.144C>T (p.Cys48=) | dbSNP |
3 | g.123352474G>C | CA354222571 | ADCY5 | c.-82C>G (n.-82C>G) c.207C>G (p.Cys69Trp) c.1242C>G (p.Cys414Trp) c.192C>G (p.Cys64Trp) n.537C>G c.146C>G (p.Ala49Gly) c.141C>G (p.Cys47Trp) c.243C>G (p.Cys81Trp) c.153C>G (p.Cys51Trp) c.144C>G (p.Cys48Trp) | |
3 | g.123352474G= | CA1398358763 | ADCY5 | c.-82C= (n.-82C=) c.207C= (p.Cys69=) c.1242C= (p.Cys414=) c.192C= (p.Cys64=) n.537C= c.146C= (p.Ala49=) c.141C= (p.Cys47=) c.243C= (p.Cys81=) c.153C= (p.Cys51=) c.144C= (p.Cys48=) | |
3 | g.123352474G>T | CA354222572 | ADCY5 | c.-82C>A (n.-82C>A) c.207C>A (p.Cys69Ter) c.1242C>A (p.Cys414Ter) c.192C>A (p.Cys64Ter) n.537C>A c.146C>A (p.Ala49Glu) c.141C>A (p.Cys47Ter) c.243C>A (p.Cys81Ter) c.153C>A (p.Cys51Ter) c.144C>A (p.Cys48Ter) | |
3 | g.123352475C>A | CA354222573 | ADCY5 | c.-83G>T (n.-83G>T) c.206G>T (p.Cys69Phe) c.1241G>T (p.Cys414Phe) c.191G>T (p.Cys64Phe) n.536G>T c.145G>T (p.Ala49Ser) c.140G>T (p.Cys47Phe) c.242G>T (p.Cys81Phe) c.152G>T (p.Cys51Phe) c.143G>T (p.Cys48Phe) | |
3 | g.123352475C>G | CA354222574 | ADCY5 | c.-83G>C (n.-83G>C) c.206G>C (p.Cys69Ser) c.1241G>C (p.Cys414Ser) c.191G>C (p.Cys64Ser) n.536G>C c.145G>C (p.Ala49Pro) c.140G>C (p.Cys47Ser) c.242G>C (p.Cys81Ser) c.152G>C (p.Cys51Ser) c.143G>C (p.Cys48Ser) | gnomAD v4 |
3 | g.123352475C>T | CA354222575 | ADCY5 | c.-83G>A (n.-83G>A) c.206G>A (p.Cys69Tyr) c.1241G>A (p.Cys414Tyr) c.191G>A (p.Cys64Tyr) n.536G>A c.145G>A (p.Ala49Thr) c.140G>A (p.Cys47Tyr) c.242G>A (p.Cys81Tyr) c.152G>A (p.Cys51Tyr) c.143G>A (p.Cys48Tyr) | |
3 | g.123352476A>C | CA354222576 | ADCY5 | c.-84T>G (n.-84T>G) c.205T>G (p.Cys69Gly) c.1240T>G (p.Cys414Gly) c.190T>G (p.Cys64Gly) n.535T>G c.144T>G (p.Ser48Arg) c.139T>G (p.Cys47Gly) c.241T>G (p.Cys81Gly) c.151T>G (p.Cys51Gly) c.142T>G (p.Cys48Gly) | |
3 | g.123352476A>G | CA354222577 | ADCY5 | c.-84T>C (n.-84T>C) c.205T>C (p.Cys69Arg) c.1240T>C (p.Cys414Arg) c.190T>C (p.Cys64Arg) n.535T>C c.144T>C (p.Ser48=) c.139T>C (p.Cys47Arg) c.241T>C (p.Cys81Arg) c.151T>C (p.Cys51Arg) c.142T>C (p.Cys48Arg) | |
3 | g.123352476A>T | CA354222578 | ADCY5 | c.-84T>A (n.-84T>A) c.205T>A (p.Cys69Ser) c.1240T>A (p.Cys414Ser) c.190T>A (p.Cys64Ser) n.535T>A c.144T>A (p.Ser48Arg) c.139T>A (p.Cys47Ser) c.241T>A (p.Cys81Ser) c.151T>A (p.Cys51Ser) c.142T>A (p.Cys48Ser) | |
3 | g.123352477C>A | CA354222579 | ADCY5 | c.-85G>T (n.-85G>T) c.204G>T (p.Glu68Asp) c.1239G>T (p.Glu413Asp) c.189G>T (p.Glu63Asp) n.534G>T c.143G>T (p.Ser48Ile) c.138G>T (p.Glu46Asp) c.240G>T (p.Glu80Asp) c.150G>T (p.Glu50Asp) c.141G>T (p.Glu47Asp) | |
3 | g.123352477C= | CA1398358764 | ADCY5 | c.-85G= (n.-85G=) c.204G= (p.Glu68=) c.1239G= (p.Glu413=) c.189G= (p.Glu63=) n.534G= c.143G= (p.Ser48=) c.138G= (p.Glu46=) c.240G= (p.Glu80=) c.150G= (p.Glu50=) c.141G= (p.Glu47=) | |
3 | g.123352477C>G | CA354222580 | ADCY5 | c.-85G>C (n.-85G>C) c.204G>C (p.Glu68Asp) c.1239G>C (p.Glu413Asp) c.189G>C (p.Glu63Asp) n.534G>C c.143G>C (p.Ser48Thr) c.138G>C (p.Glu46Asp) c.240G>C (p.Glu80Asp) c.150G>C (p.Glu50Asp) c.141G>C (p.Glu47Asp) | |
3 | g.123352477C>T | CA2577524 | ADCY5 | c.-85G>A (n.-85G>A) c.204G>A (p.Glu68=) c.1239G>A (p.Glu413=) c.189G>A (p.Glu63=) n.534G>A c.143G>A (p.Ser48Asn) c.138G>A (p.Glu46=) c.240G>A (p.Glu80=) c.150G>A (p.Glu50=) c.141G>A (p.Glu47=) | dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.123352478T>A | CA354222582 | ADCY5 | c.-86A>T (n.-86A>T) c.203A>T (p.Glu68Val) c.1238A>T (p.Glu413Val) c.188A>T (p.Glu63Val) n.533A>T c.142A>T (p.Ser48Cys) c.137A>T (p.Glu46Val) c.239A>T (p.Glu80Val) c.149A>T (p.Glu50Val) c.140A>T (p.Glu47Val) | |
3 | g.123352478T>C | CA354222583 | ADCY5 | c.-86A>G (n.-86A>G) c.203A>G (p.Glu68Gly) c.1238A>G (p.Glu413Gly) c.188A>G (p.Glu63Gly) n.533A>G c.142A>G (p.Ser48Gly) c.137A>G (p.Glu46Gly) c.239A>G (p.Glu80Gly) c.149A>G (p.Glu50Gly) c.140A>G (p.Glu47Gly) | |
3 | g.123352478T>G | CA354222581 | ADCY5 | c.-86A>C (n.-86A>C) c.203A>C (p.Glu68Ala) c.1238A>C (p.Glu413Ala) c.188A>C (p.Glu63Ala) n.533A>C c.142A>C (p.Ser48Arg) c.137A>C (p.Glu46Ala) c.239A>C (p.Glu80Ala) c.149A>C (p.Glu50Ala) c.140A>C (p.Glu47Ala) | |
3 | g.123352479C>A | CA354222585 | ADCY5 | c.-87G>T (n.-87G>T) c.202G>T (p.Glu68Ter) c.1237G>T (p.Glu413Ter) c.187G>T (p.Glu63Ter) n.532G>T c.141G>T (p.Glu47Asp) c.136G>T (p.Glu46Ter) c.238G>T (p.Glu80Ter) c.148G>T (p.Glu50Ter) c.139G>T (p.Glu47Ter) | dbSNP |
3 | g.123352479C= | CA1398358765 | ADCY5 | c.-87G= (n.-87G=) c.202G= (p.Glu68=) c.1237G= (p.Glu413=) c.187G= (p.Glu63=) n.532G= c.141G= (p.Glu47=) c.136G= (p.Glu46=) c.238G= (p.Glu80=) c.148G= (p.Glu50=) c.139G= (p.Glu47=) | |
3 | g.123352479C>G | CA354222584 | ADCY5 | c.-87G>C (n.-87G>C) c.202G>C (p.Glu68Gln) c.1237G>C (p.Glu413Gln) c.187G>C (p.Glu63Gln) n.532G>C c.141G>C (p.Glu47Asp) c.136G>C (p.Glu46Gln) c.238G>C (p.Glu80Gln) c.148G>C (p.Glu50Gln) c.139G>C (p.Glu47Gln) | |
3 | g.123352479C>T | CA354222586 | ADCY5 | c.-87G>A (n.-87G>A) c.202G>A (p.Glu68Lys) c.1237G>A (p.Glu413Lys) c.187G>A (p.Glu63Lys) n.532G>A c.141G>A (p.Glu47=) c.136G>A (p.Glu46Lys) c.238G>A (p.Glu80Lys) c.148G>A (p.Glu50Lys) c.139G>A (p.Glu47Lys) | |
3 | g.123352480T>A | CA435296447 | ADCY5 | c.-88A>T (n.-88A>T) c.201A>T (p.Arg67=) c.1236A>T (p.Arg412=) c.186A>T (p.Arg62=) n.531A>T c.140A>T (p.Glu47Val) c.135A>T (p.Arg45=) c.237A>T (p.Arg79=) c.147A>T (p.Arg49=) c.138A>T (p.Arg46=) | |
3 | g.123352480T>C | CA435296448 | ADCY5 | c.-88A>G (n.-88A>G) c.201A>G (p.Arg67=) c.1236A>G (p.Arg412=) c.186A>G (p.Arg62=) n.531A>G c.140A>G (p.Glu47Gly) c.135A>G (p.Arg45=) c.237A>G (p.Arg79=) c.147A>G (p.Arg49=) c.138A>G (p.Arg46=) | |
3 | g.123352480T>G | CA435296449 | ADCY5 | c.-88A>C (n.-88A>C) c.201A>C (p.Arg67=) c.1236A>C (p.Arg412=) c.186A>C (p.Arg62=) n.531A>C c.140A>C (p.Glu47Ala) c.135A>C (p.Arg45=) c.237A>C (p.Arg79=) c.147A>C (p.Arg49=) c.138A>C (p.Arg46=) | |
3 | g.123352481C>A | CA354222587 | ADCY5 | c.-89G>T (n.-89G>T) c.200G>T (p.Arg67Leu) c.1235G>T (p.Arg412Leu) c.185G>T (p.Arg62Leu) n.530G>T c.139G>T (p.Glu47Ter) c.134G>T (p.Arg45Leu) c.236G>T (p.Arg79Leu) c.146G>T (p.Arg49Leu) c.137G>T (p.Arg46Leu) | ClinVar |
3 | g.123352481C>G | CA354222589 | ADCY5 | c.-89G>C (n.-89G>C) c.200G>C (p.Arg67Pro) c.1235G>C (p.Arg412Pro) c.185G>C (p.Arg62Pro) n.530G>C c.139G>C (p.Glu47Gln) c.134G>C (p.Arg45Pro) c.236G>C (p.Arg79Pro) c.146G>C (p.Arg49Pro) c.137G>C (p.Arg46Pro) | gnomAD v4 |
3 | g.123352481C>T | CA354222588 | ADCY5 | c.-89G>A (n.-89G>A) c.200G>A (p.Arg67Gln) c.1235G>A (p.Arg412Gln) c.185G>A (p.Arg62Gln) n.530G>A c.139G>A (p.Glu47Lys) c.134G>A (p.Arg45Gln) c.236G>A (p.Arg79Gln) c.146G>A (p.Arg49Gln) c.137G>A (p.Arg46Gln) | gnomAD v4 |
3 | g.123352482G>A | CA354222590 | ADCY5 | c.-90C>T (n.-90C>T) c.199C>T (p.Arg67Ter) c.1234C>T (p.Arg412Ter) c.184C>T (p.Arg62Ter) n.529C>T c.138C>T (p.Pro46=) c.133C>T (p.Arg45Ter) c.235C>T (p.Arg79Ter) c.145C>T (p.Arg49Ter) c.136C>T (p.Arg46Ter) | dbSNP gnomAD v2 |
3 | g.123352482G>C | CA354222591 | ADCY5 | c.-90C>G (n.-90C>G) c.199C>G (p.Arg67Gly) c.1234C>G (p.Arg412Gly) c.184C>G (p.Arg62Gly) n.529C>G c.138C>G (p.Pro46=) c.133C>G (p.Arg45Gly) c.235C>G (p.Arg79Gly) c.145C>G (p.Arg49Gly) c.136C>G (p.Arg46Gly) | |
3 | g.123352482G= | CA1398358766 | ADCY5 | c.-90C= (n.-90C=) c.199C= (p.Arg67=) c.1234C= (p.Arg412=) c.184C= (p.Arg62=) n.529C= c.138C= (p.Pro46=) c.133C= (p.Arg45=) c.235C= (p.Arg79=) c.145C= (p.Arg49=) c.136C= (p.Arg46=) | |
3 | g.123352482G>T | CA435296450 | ADCY5 | c.-90C>A (n.-90C>A) c.199C>A (p.Arg67=) c.1234C>A (p.Arg412=) c.184C>A (p.Arg62=) n.529C>A c.138C>A (p.Pro46=) c.133C>A (p.Arg45=) c.235C>A (p.Arg79=) c.145C>A (p.Arg49=) c.136C>A (p.Arg46=) | |
3 | g.123352484del | CA2667300401 | ADCY5 | c.-90del (n.-90del) c.199del (p.Arg67GlufsTer?) c.1234del (p.Arg412GlufsTer?) c.184del (p.Arg62GlufsTer?) n.529del c.138del (p.Glu47ArgfsTer?) c.133del (p.Arg45GlufsTer?) c.235del (p.Arg79GlufsTer?) c.145del (p.Arg49GlufsTer?) c.136del (p.Arg46GlufsTer?) | gnomAD v4 |
3 | g.123352483G>A | CA435296451 | ADCY5 | c.-91C>T (n.-91C>T) c.198C>T (p.Thr66=) c.1233C>T (p.Thr411=) c.183C>T (p.Thr61=) n.528C>T c.137C>T (p.Pro46Leu) c.132C>T (p.Thr44=) c.234C>T (p.Thr78=) c.144C>T (p.Thr48=) c.135C>T (p.Thr45=) | gnomAD v4 |
3 | g.123352483G>C | CA435296452 | ADCY5 | c.-91C>G (n.-91C>G) c.198C>G (p.Thr66=) c.1233C>G (p.Thr411=) c.183C>G (p.Thr61=) n.528C>G c.137C>G (p.Pro46Arg) c.132C>G (p.Thr44=) c.234C>G (p.Thr78=) c.144C>G (p.Thr48=) c.135C>G (p.Thr45=) | |
3 | g.123352483G= | CA1398358767 | ADCY5 | c.-91C= (n.-91C=) c.198C= (p.Thr66=) c.1233C= (p.Thr411=) c.183C= (p.Thr61=) n.528C= c.137C= (p.Pro46=) c.132C= (p.Thr44=) c.234C= (p.Thr78=) c.144C= (p.Thr48=) c.135C= (p.Thr45=) | |
3 | g.123352483G>T | CA2577525 | ADCY5 | c.-91C>A (n.-91C>A) c.198C>A (p.Thr66=) c.1233C>A (p.Thr411=) c.183C>A (p.Thr61=) n.528C>A c.137C>A (p.Pro46His) c.132C>A (p.Thr44=) c.234C>A (p.Thr78=) c.144C>A (p.Thr48=) c.135C>A (p.Thr45=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123352484G>A | CA354222594 | ADCY5 | c.-92C>T (n.-92C>T) c.197C>T (p.Thr66Ile) c.1232C>T (p.Thr411Ile) c.182C>T (p.Thr61Ile) n.527C>T c.136C>T (p.Pro46Ser) c.131C>T (p.Thr44Ile) c.233C>T (p.Thr78Ile) c.143C>T (p.Thr48Ile) c.134C>T (p.Thr45Ile) | |
3 | g.123352484G>C | CA354222592 | ADCY5 | c.-92C>G (n.-92C>G) c.197C>G (p.Thr66Ser) c.1232C>G (p.Thr411Ser) c.182C>G (p.Thr61Ser) n.527C>G c.136C>G (p.Pro46Ala) c.131C>G (p.Thr44Ser) c.233C>G (p.Thr78Ser) c.143C>G (p.Thr48Ser) c.134C>G (p.Thr45Ser) | |
3 | g.123352484G>T | CA354222593 | ADCY5 | c.-92C>A (n.-92C>A) c.197C>A (p.Thr66Asn) c.1232C>A (p.Thr411Asn) c.182C>A (p.Thr61Asn) n.527C>A c.136C>A (p.Pro46Thr) c.131C>A (p.Thr44Asn) c.233C>A (p.Thr78Asn) c.143C>A (p.Thr48Asn) c.134C>A (p.Thr45Asn) | |
3 | g.123352485T>A | CA354222595 | ADCY5 | c.-93A>T (n.-93A>T) c.196A>T (p.Thr66Ser) c.1231A>T (p.Thr411Ser) c.181A>T (p.Thr61Ser) n.526A>T c.135A>T (p.Arg45Ser) c.130A>T (p.Thr44Ser) c.232A>T (p.Thr78Ser) c.142A>T (p.Thr48Ser) c.133A>T (p.Thr45Ser) | |
3 | g.123352485T>C | CA354222596 | ADCY5 | c.-93A>G (n.-93A>G) c.196A>G (p.Thr66Ala) c.1231A>G (p.Thr411Ala) c.181A>G (p.Thr61Ala) n.526A>G c.135A>G (p.Arg45=) c.130A>G (p.Thr44Ala) c.232A>G (p.Thr78Ala) c.142A>G (p.Thr48Ala) c.133A>G (p.Thr45Ala) | |
3 | g.123352485T>G | CA354222597 | ADCY5 | c.-93A>C (n.-93A>C) c.196A>C (p.Thr66Pro) c.1231A>C (p.Thr411Pro) c.181A>C (p.Thr61Pro) n.526A>C c.135A>C (p.Arg45Ser) c.130A>C (p.Thr44Pro) c.232A>C (p.Thr78Pro) c.142A>C (p.Thr48Pro) c.133A>C (p.Thr45Pro) | |
3 | g.123352486C>A | CA354222598 | ADCY5 | c.-94G>T (n.-94G>T) c.195G>T (p.Glu65Asp) c.1230G>T (p.Glu410Asp) c.180G>T (p.Glu60Asp) n.525G>T c.134G>T (p.Arg45Ile) c.129G>T (p.Glu43Asp) c.231G>T (p.Glu77Asp) c.141G>T (p.Glu47Asp) c.132G>T (p.Glu44Asp) | |
3 | g.123352486C= | CA1398358768 | ADCY5 | c.-94G= (n.-94G=) c.195G= (p.Glu65=) c.1230G= (p.Glu410=) c.180G= (p.Glu60=) n.525G= c.134G= (p.Arg45=) c.129G= (p.Glu43=) c.231G= (p.Glu77=) c.141G= (p.Glu47=) c.132G= (p.Glu44=) | |
3 | g.123352486C>G | CA2577526 | ADCY5 | c.-94G>C (n.-94G>C) c.195G>C (p.Glu65Asp) c.1230G>C (p.Glu410Asp) c.180G>C (p.Glu60Asp) n.525G>C c.134G>C (p.Arg45Thr) c.129G>C (p.Glu43Asp) c.231G>C (p.Glu77Asp) c.141G>C (p.Glu47Asp) c.132G>C (p.Glu44Asp) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123352486C>T | CA435296454 | ADCY5 | c.-94G>A (n.-94G>A) c.195G>A (p.Glu65=) c.1230G>A (p.Glu410=) c.180G>A (p.Glu60=) n.525G>A c.134G>A (p.Arg45Lys) c.129G>A (p.Glu43=) c.231G>A (p.Glu77=) c.141G>A (p.Glu47=) c.132G>A (p.Glu44=) | |
3 | g.123352487T>A | CA354222601 | ADCY5 | c.-95A>T (n.-95A>T) c.194A>T (p.Glu65Val) c.1229A>T (p.Glu410Val) c.179A>T (p.Glu60Val) n.524A>T c.133A>T (p.Arg45Ter) c.128A>T (p.Glu43Val) c.230A>T (p.Glu77Val) c.140A>T (p.Glu47Val) c.131A>T (p.Glu44Val) | |
3 | g.123352487T>C | CA354222599 | ADCY5 | c.-95A>G (n.-95A>G) c.194A>G (p.Glu65Gly) c.1229A>G (p.Glu410Gly) c.179A>G (p.Glu60Gly) n.524A>G c.133A>G (p.Arg45Gly) c.128A>G (p.Glu43Gly) c.230A>G (p.Glu77Gly) c.140A>G (p.Glu47Gly) c.131A>G (p.Glu44Gly) | |
3 | g.123352487T>G | CA354222600 | ADCY5 | c.-95A>C (n.-95A>C) c.194A>C (p.Glu65Ala) c.1229A>C (p.Glu410Ala) c.179A>C (p.Glu60Ala) n.524A>C c.133A>C (p.Arg45=) c.128A>C (p.Glu43Ala) c.230A>C (p.Glu77Ala) c.140A>C (p.Glu47Ala) c.131A>C (p.Glu44Ala) | |
3 | g.123352488C>A | CA354222602 | ADCY5 | c.-96G>T (n.-96G>T) c.193G>T (p.Glu65Ter) c.1228G>T (p.Glu410Ter) c.178G>T (p.Glu60Ter) n.523G>T c.132G>T (p.Arg44Ser) c.127G>T (p.Glu43Ter) c.229G>T (p.Glu77Ter) c.139G>T (p.Glu47Ter) c.130G>T (p.Glu44Ter) | |
3 | g.123352488C>G | CA354222603 | ADCY5 | c.-96G>C (n.-96G>C) c.193G>C (p.Glu65Gln) c.1228G>C (p.Glu410Gln) c.178G>C (p.Glu60Gln) n.523G>C c.132G>C (p.Arg44Ser) c.127G>C (p.Glu43Gln) c.229G>C (p.Glu77Gln) c.139G>C (p.Glu47Gln) c.130G>C (p.Glu44Gln) | |
3 | g.123352488C>T | CA354222604 | ADCY5 | c.-96G>A (n.-96G>A) c.193G>A (p.Glu65Lys) c.1228G>A (p.Glu410Lys) c.178G>A (p.Glu60Lys) n.523G>A c.132G>A (p.Arg44=) c.127G>A (p.Glu43Lys) c.229G>A (p.Glu77Lys) c.139G>A (p.Glu47Lys) c.130G>A (p.Glu44Lys) | |
3 | g.123352489C>A | CA354222605 | ADCY5 | c.-97G>T (n.-97G>T) c.192G>T (p.Gln64His) c.1227G>T (p.Gln409His) c.177G>T (p.Gln59His) n.522G>T c.131G>T (p.Arg44Met) c.126G>T (p.Gln42His) c.228G>T (p.Gln76His) c.138G>T (p.Gln46His) c.129G>T (p.Gln43His) | |
3 | g.123352489C>G | CA354222606 | ADCY5 | c.-97G>C (n.-97G>C) c.192G>C (p.Gln64His) c.1227G>C (p.Gln409His) c.177G>C (p.Gln59His) n.522G>C c.131G>C (p.Arg44Thr) c.126G>C (p.Gln42His) c.228G>C (p.Gln76His) c.138G>C (p.Gln46His) c.129G>C (p.Gln43His) | |
3 | g.123352489C>T | CA435296455 | ADCY5 | c.-97G>A (n.-97G>A) c.192G>A (p.Gln64=) c.1227G>A (p.Gln409=) c.177G>A (p.Gln59=) n.522G>A c.131G>A (p.Arg44Lys) c.126G>A (p.Gln42=) c.228G>A (p.Gln76=) c.138G>A (p.Gln46=) c.129G>A (p.Gln43=) | |
3 | g.123352490T>A | CA354222607 | ADCY5 | c.-98A>T (n.-98A>T) c.191A>T (p.Gln64Leu) c.1226A>T (p.Gln409Leu) c.176A>T (p.Gln59Leu) n.521A>T c.130A>T (p.Arg44Trp) c.125A>T (p.Gln42Leu) c.227A>T (p.Gln76Leu) c.137A>T (p.Gln46Leu) c.128A>T (p.Gln43Leu) | gnomAD v4 |
3 | g.123352490T>C | CA354222609 | ADCY5 | c.-98A>G (n.-98A>G) c.191A>G (p.Gln64Arg) c.1226A>G (p.Gln409Arg) c.176A>G (p.Gln59Arg) n.521A>G c.130A>G (p.Arg44Gly) c.125A>G (p.Gln42Arg) c.227A>G (p.Gln76Arg) c.137A>G (p.Gln46Arg) c.128A>G (p.Gln43Arg) | |
3 | g.123352490T>G | CA354222608 | ADCY5 | c.-98A>C (n.-98A>C) c.191A>C (p.Gln64Pro) c.1226A>C (p.Gln409Pro) c.176A>C (p.Gln59Pro) n.521A>C c.130A>C (p.Arg44=) c.125A>C (p.Gln42Pro) c.227A>C (p.Gln76Pro) c.137A>C (p.Gln46Pro) c.128A>C (p.Gln43Pro) | |
3 | g.123352491G>A | CA354222610 | ADCY5 | c.-99C>T (n.-99C>T) c.190C>T (p.Gln64Ter) c.1225C>T (p.Gln409Ter) c.175C>T (p.Gln59Ter) n.520C>T c.129C>T (p.Ser43=) c.124C>T (p.Gln42Ter) c.226C>T (p.Gln76Ter) c.136C>T (p.Gln46Ter) c.127C>T (p.Gln43Ter) | |
3 | g.123352491G>C | CA354222611 | ADCY5 | c.-99C>G (n.-99C>G) c.190C>G (p.Gln64Glu) c.1225C>G (p.Gln409Glu) c.175C>G (p.Gln59Glu) n.520C>G c.129C>G (p.Ser43=) c.124C>G (p.Gln42Glu) c.226C>G (p.Gln76Glu) c.136C>G (p.Gln46Glu) c.127C>G (p.Gln43Glu) | |
3 | g.123352491G>T | CA354222612 | ADCY5 | c.-99C>A (n.-99C>A) c.190C>A (p.Gln64Lys) c.1225C>A (p.Gln409Lys) c.175C>A (p.Gln59Lys) n.520C>A c.129C>A (p.Ser43=) c.124C>A (p.Gln42Lys) c.226C>A (p.Gln76Lys) c.136C>A (p.Gln46Lys) c.127C>A (p.Gln43Lys) | |
3 | g.123352492G>A | CA435296456 | ADCY5 | c.-100C>T (n.-100C>T) c.189C>T (p.Phe63=) c.1224C>T (p.Phe408=) c.174C>T (p.Phe58=) n.519C>T c.128C>T (p.Ser43Phe) c.123C>T (p.Phe41=) c.225C>T (p.Phe75=) c.135C>T (p.Phe45=) c.126C>T (p.Phe42=) | |
3 | g.123352492G>C | CA354222613 | ADCY5 | c.-100C>G (n.-100C>G) c.189C>G (p.Phe63Leu) c.1224C>G (p.Phe408Leu) c.174C>G (p.Phe58Leu) n.519C>G c.128C>G (p.Ser43Cys) c.123C>G (p.Phe41Leu) c.225C>G (p.Phe75Leu) c.135C>G (p.Phe45Leu) c.126C>G (p.Phe42Leu) | |
3 | g.123352492G>T | CA354222614 | ADCY5 | c.-100C>A (n.-100C>A) c.189C>A (p.Phe63Leu) c.1224C>A (p.Phe408Leu) c.174C>A (p.Phe58Leu) n.519C>A c.128C>A (p.Ser43Tyr) c.123C>A (p.Phe41Leu) c.225C>A (p.Phe75Leu) c.135C>A (p.Phe45Leu) c.126C>A (p.Phe42Leu) | |
3 | g.123352493A>C | CA354222615 | ADCY5 | c.-101T>G (n.-101T>G) c.188T>G (p.Phe63Cys) c.1223T>G (p.Phe408Cys) c.173T>G (p.Phe58Cys) n.518T>G c.127T>G (p.Ser43Ala) c.122T>G (p.Phe41Cys) c.224T>G (p.Phe75Cys) c.134T>G (p.Phe45Cys) c.125T>G (p.Phe42Cys) | |
3 | g.123352493A>G | CA354222616 | ADCY5 | c.-101T>C (n.-101T>C) c.188T>C (p.Phe63Ser) c.1223T>C (p.Phe408Ser) c.173T>C (p.Phe58Ser) n.518T>C c.127T>C (p.Ser43Pro) c.122T>C (p.Phe41Ser) c.224T>C (p.Phe75Ser) c.134T>C (p.Phe45Ser) c.125T>C (p.Phe42Ser) | |
3 | g.123352493A>T | CA354222617 | ADCY5 | c.-101T>A (n.-101T>A) c.188T>A (p.Phe63Tyr) c.1223T>A (p.Phe408Tyr) c.173T>A (p.Phe58Tyr) n.518T>A c.127T>A (p.Ser43Thr) c.122T>A (p.Phe41Tyr) c.224T>A (p.Phe75Tyr) c.134T>A (p.Phe45Tyr) c.125T>A (p.Phe42Tyr) | |
3 | g.123352494A>C | CA354222618 | ADCY5 | c.-102T>G (n.-102T>G) c.187T>G (p.Phe63Val) c.1222T>G (p.Phe408Val) c.172T>G (p.Phe58Val) n.517T>G c.126T>G (p.Leu42=) c.121T>G (p.Phe41Val) c.223T>G (p.Phe75Val) c.133T>G (p.Phe45Val) c.124T>G (p.Phe42Val) | |
3 | g.123352494A>G | CA354222619 | ADCY5 | c.-102T>C (n.-102T>C) c.187T>C (p.Phe63Leu) c.1222T>C (p.Phe408Leu) c.172T>C (p.Phe58Leu) n.517T>C c.126T>C (p.Leu42=) c.121T>C (p.Phe41Leu) c.223T>C (p.Phe75Leu) c.133T>C (p.Phe45Leu) c.124T>C (p.Phe42Leu) | |
3 | g.123352494A>T | CA354222620 | ADCY5 | c.-102T>A (n.-102T>A) c.187T>A (p.Phe63Ile) c.1222T>A (p.Phe408Ile) c.172T>A (p.Phe58Ile) n.517T>A c.126T>A (p.Leu42=) c.121T>A (p.Phe41Ile) c.223T>A (p.Phe75Ile) c.133T>A (p.Phe45Ile) c.124T>A (p.Phe42Ile) | |
3 | g.123352495A>C | CA435296457 | ADCY5 | c.-103T>G (n.-103T>G) c.186T>G (p.Ala62=) c.1221T>G (p.Ala407=) c.171T>G (p.Ala57=) n.516T>G c.125T>G (p.Leu42Arg) c.120T>G (p.Ala40=) c.222T>G (p.Ala74=) c.132T>G (p.Ala44=) c.123T>G (p.Ala41=) | |
3 | g.123352495A>G | CA435296458 | ADCY5 | c.-103T>C (n.-103T>C) c.186T>C (p.Ala62=) c.1221T>C (p.Ala407=) c.171T>C (p.Ala57=) n.516T>C c.125T>C (p.Leu42Pro) c.120T>C (p.Ala40=) c.222T>C (p.Ala74=) c.132T>C (p.Ala44=) c.123T>C (p.Ala41=) | |
3 | g.123352495A>T | CA435296459 | ADCY5 | c.-103T>A (n.-103T>A) c.186T>A (p.Ala62=) c.1221T>A (p.Ala407=) c.171T>A (p.Ala57=) n.516T>A c.125T>A (p.Leu42His) c.120T>A (p.Ala40=) c.222T>A (p.Ala74=) c.132T>A (p.Ala44=) c.123T>A (p.Ala41=) | |
3 | g.123352496G>A | CA354222621 | ADCY5 | c.-104C>T (n.-104C>T) c.185C>T (p.Ala62Val) c.1220C>T (p.Ala407Val) c.170C>T (p.Ala57Val) n.515C>T c.124C>T (p.Leu42Phe) c.119C>T (p.Ala40Val) c.221C>T (p.Ala74Val) c.131C>T (p.Ala44Val) c.122C>T (p.Ala41Val) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.123352496G>C | CA354222623 | ADCY5 | c.-104C>G (n.-104C>G) c.185C>G (p.Ala62Gly) c.1220C>G (p.Ala407Gly) c.170C>G (p.Ala57Gly) n.515C>G c.124C>G (p.Leu42Val) c.119C>G (p.Ala40Gly) c.221C>G (p.Ala74Gly) c.131C>G (p.Ala44Gly) c.122C>G (p.Ala41Gly) | |
3 | g.123352496G= | CA1398358769 | ADCY5 | c.-104C= (n.-104C=) c.185C= (p.Ala62=) c.1220C= (p.Ala407=) c.170C= (p.Ala57=) n.515C= c.124C= (p.Leu42=) c.119C= (p.Ala40=) c.221C= (p.Ala74=) c.131C= (p.Ala44=) c.122C= (p.Ala41=) | |
3 | g.123352496G>T | CA354222622 | ADCY5 | c.-104C>A (n.-104C>A) c.185C>A (p.Ala62Asp) c.1220C>A (p.Ala407Asp) c.170C>A (p.Ala57Asp) n.515C>A c.124C>A (p.Leu42Ile) c.119C>A (p.Ala40Asp) c.221C>A (p.Ala74Asp) c.131C>A (p.Ala44Asp) c.122C>A (p.Ala41Asp) | |
3 | g.123352497C>A | CA354222624 | ADCY5 | c.-105G>T (n.-105G>T) c.184G>T (p.Ala62Ser) c.1219G>T (p.Ala407Ser) c.169G>T (p.Ala57Ser) n.514G>T c.123G>T (p.Arg41Ser) c.118G>T (p.Ala40Ser) c.220G>T (p.Ala74Ser) c.130G>T (p.Ala44Ser) c.121G>T (p.Ala41Ser) | |
3 | g.123352497C= | CA1398358770 | ADCY5 | c.-105G= (n.-105G=) c.184G= (p.Ala62=) c.1219G= (p.Ala407=) c.169G= (p.Ala57=) n.514G= c.123G= (p.Arg41=) c.118G= (p.Ala40=) c.220G= (p.Ala74=) c.130G= (p.Ala44=) c.121G= (p.Ala41=) | |
3 | g.123352497C>G | CA354222625 | ADCY5 | c.-105G>C (n.-105G>C) c.184G>C (p.Ala62Pro) c.1219G>C (p.Ala407Pro) c.169G>C (p.Ala57Pro) n.514G>C c.123G>C (p.Arg41Ser) c.118G>C (p.Ala40Pro) c.220G>C (p.Ala74Pro) c.130G>C (p.Ala44Pro) c.121G>C (p.Ala41Pro) | |
3 | g.123352497C>T | CA354222626 | ADCY5 | c.-105G>A (n.-105G>A) c.184G>A (p.Ala62Thr) c.1219G>A (p.Ala407Thr) c.169G>A (p.Ala57Thr) n.514G>A c.123G>A (p.Arg41=) c.118G>A (p.Ala40Thr) c.220G>A (p.Ala74Thr) c.130G>A (p.Ala44Thr) c.121G>A (p.Ala41Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
3 | g.123352498C>A | CA354222627 | ADCY5 | c.-106G>T (n.-106G>T) c.183G>T (p.Gln61His) c.1218G>T (p.Gln406His) c.168G>T (p.Gln56His) n.513G>T c.122G>T (p.Arg41Met) c.117G>T (p.Gln39His) c.219G>T (p.Gln73His) c.129G>T (p.Gln43His) c.120G>T (p.Gln40His) | |
3 | g.123352498C>G | CA354222628 | ADCY5 | c.-106G>C (n.-106G>C) c.183G>C (p.Gln61His) c.1218G>C (p.Gln406His) c.168G>C (p.Gln56His) n.513G>C c.122G>C (p.Arg41Thr) c.117G>C (p.Gln39His) c.219G>C (p.Gln73His) c.129G>C (p.Gln43His) c.120G>C (p.Gln40His) | |
3 | g.123352498C>T | CA435296460 | ADCY5 | c.-106G>A (n.-106G>A) c.183G>A (p.Gln61=) c.1218G>A (p.Gln406=) c.168G>A (p.Gln56=) n.513G>A c.122G>A (p.Arg41Lys) c.117G>A (p.Gln39=) c.219G>A (p.Gln73=) c.129G>A (p.Gln43=) c.120G>A (p.Gln40=) | |
3 | g.123352499T>A | CA354222629 | ADCY5 | c.-107A>T (n.-107A>T) c.182A>T (p.Gln61Leu) c.1217A>T (p.Gln406Leu) c.167A>T (p.Gln56Leu) n.512A>T c.121A>T (p.Arg41Trp) c.116A>T (p.Gln39Leu) c.218A>T (p.Gln73Leu) c.128A>T (p.Gln43Leu) c.119A>T (p.Gln40Leu) | |
3 | g.123352499T>C | CA354222630 | ADCY5 | c.-107A>G (n.-107A>G) c.182A>G (p.Gln61Arg) c.1217A>G (p.Gln406Arg) c.167A>G (p.Gln56Arg) n.512A>G c.121A>G (p.Arg41Gly) c.116A>G (p.Gln39Arg) c.218A>G (p.Gln73Arg) c.128A>G (p.Gln43Arg) c.119A>G (p.Gln40Arg) | dbSNP gnomAD v2 |
3 | g.123352499T>G | CA354222631 | ADCY5 | c.-107A>C (n.-107A>C) c.182A>C (p.Gln61Pro) c.1217A>C (p.Gln406Pro) c.167A>C (p.Gln56Pro) n.512A>C c.121A>C (p.Arg41=) c.116A>C (p.Gln39Pro) c.218A>C (p.Gln73Pro) c.128A>C (p.Gln43Pro) c.119A>C (p.Gln40Pro) | |
3 | g.123352499T= | CA1398358771 | ADCY5 | c.-107A= (n.-107A=) c.182A= (p.Gln61=) c.1217A= (p.Gln406=) c.167A= (p.Gln56=) n.512A= c.121A= (p.Arg41=) c.116A= (p.Gln39=) c.218A= (p.Gln73=) c.128A= (p.Gln43=) c.119A= (p.Gln40=) | |
3 | g.123352500G>A | CA354222632 | ADCY5 | c.-108C>T (n.-108C>T) c.181C>T (p.Gln61Ter) c.1216C>T (p.Gln406Ter) c.166C>T (p.Gln56Ter) n.511C>T c.120C>T (p.Asp40=) c.115C>T (p.Gln39Ter) c.217C>T (p.Gln73Ter) c.127C>T (p.Gln43Ter) c.118C>T (p.Gln40Ter) | dbSNP |
3 | g.123352500G>C | CA354222633 | ADCY5 | c.-108C>G (n.-108C>G) c.181C>G (p.Gln61Glu) c.1216C>G (p.Gln406Glu) c.166C>G (p.Gln56Glu) n.511C>G c.120C>G (p.Asp40Glu) c.115C>G (p.Gln39Glu) c.217C>G (p.Gln73Glu) c.127C>G (p.Gln43Glu) c.118C>G (p.Gln40Glu) | |
3 | g.123352500G= | CA1398358772 | ADCY5 | c.-108C= (n.-108C=) c.181C= (p.Gln61=) c.1216C= (p.Gln406=) c.166C= (p.Gln56=) n.511C= c.120C= (p.Asp40=) c.115C= (p.Gln39=) c.217C= (p.Gln73=) c.127C= (p.Gln43=) c.118C= (p.Gln40=) | |
3 | g.123352500G>T | CA354222634 | ADCY5 | c.-108C>A (n.-108C>A) c.181C>A (p.Gln61Lys) c.1216C>A (p.Gln406Lys) c.166C>A (p.Gln56Lys) n.511C>A c.120C>A (p.Asp40Glu) c.115C>A (p.Gln39Lys) c.217C>A (p.Gln73Lys) c.127C>A (p.Gln43Lys) c.118C>A (p.Gln40Lys) | |
3 | g.123352501T>A | CA354222635 | ADCY5 | c.-109A>T (n.-109A>T) c.180A>T (p.Arg60Ser) c.1215A>T (p.Arg405Ser) c.165A>T (p.Arg55Ser) n.510A>T c.119A>T (p.Asp40Val) c.114A>T (p.Arg38Ser) c.216A>T (p.Arg72Ser) c.126A>T (p.Arg42Ser) c.117A>T (p.Arg39Ser) | |
3 | g.123352501T>C | CA435296461 | ADCY5 | c.-109A>G (n.-109A>G) c.180A>G (p.Arg60=) c.1215A>G (p.Arg405=) c.165A>G (p.Arg55=) n.510A>G c.119A>G (p.Asp40Gly) c.114A>G (p.Arg38=) c.216A>G (p.Arg72=) c.126A>G (p.Arg42=) c.117A>G (p.Arg39=) | |
3 | g.123352501T>G | CA354222636 | ADCY5 | c.-109A>C (n.-109A>C) c.180A>C (p.Arg60Ser) c.1215A>C (p.Arg405Ser) c.165A>C (p.Arg55Ser) n.510A>C c.119A>C (p.Asp40Ala) c.114A>C (p.Arg38Ser) c.216A>C (p.Arg72Ser) c.126A>C (p.Arg42Ser) c.117A>C (p.Arg39Ser) | |
3 | g.123352502C>A | CA354222637 | ADCY5 | c.-110G>T (n.-110G>T) c.179G>T (p.Arg60Ile) c.1214G>T (p.Arg405Ile) c.164G>T (p.Arg55Ile) n.509G>T c.118G>T (p.Asp40Tyr) c.113G>T (p.Arg38Ile) c.215G>T (p.Arg72Ile) c.125G>T (p.Arg42Ile) c.116G>T (p.Arg39Ile) | |
3 | g.123352502C>G | CA354222639 | ADCY5 | c.-110G>C (n.-110G>C) c.179G>C (p.Arg60Thr) c.1214G>C (p.Arg405Thr) c.164G>C (p.Arg55Thr) n.509G>C c.118G>C (p.Asp40His) c.113G>C (p.Arg38Thr) c.215G>C (p.Arg72Thr) c.125G>C (p.Arg42Thr) c.116G>C (p.Arg39Thr) | gnomAD v4 |
3 | g.123352502C>T | CA354222638 | ADCY5 | c.-110G>A (n.-110G>A) c.179G>A (p.Arg60Lys) c.1214G>A (p.Arg405Lys) c.164G>A (p.Arg55Lys) n.509G>A c.118G>A (p.Asp40Asn) c.113G>A (p.Arg38Lys) c.215G>A (p.Arg72Lys) c.125G>A (p.Arg42Lys) c.116G>A (p.Arg39Lys) | |
3 | g.123352503T>A | CA354222640 | ADCY5 | c.-111A>T (n.-111A>T) c.178A>T (p.Arg60Ter) c.1213A>T (p.Arg405Ter) c.163A>T (p.Arg55Ter) n.508A>T c.117A>T (p.Arg39Ser) c.112A>T (p.Arg38Ter) c.214A>T (p.Arg72Ter) c.124A>T (p.Arg42Ter) c.115A>T (p.Arg39Ter) | dbSNP |
3 | g.123352503T>C | CA354222641 | ADCY5 | c.-111A>G (n.-111A>G) c.178A>G (p.Arg60Gly) c.1213A>G (p.Arg405Gly) c.163A>G (p.Arg55Gly) n.508A>G c.117A>G (p.Arg39=) c.112A>G (p.Arg38Gly) c.214A>G (p.Arg72Gly) c.124A>G (p.Arg42Gly) c.115A>G (p.Arg39Gly) | |
3 | g.123352503T>G | CA435296462 | ADCY5 | c.-111A>C (n.-111A>C) c.178A>C (p.Arg60=) c.1213A>C (p.Arg405=) c.163A>C (p.Arg55=) n.508A>C c.117A>C (p.Arg39Ser) c.112A>C (p.Arg38=) c.214A>C (p.Arg72=) c.124A>C (p.Arg42=) c.115A>C (p.Arg39=) | |
3 | g.123352503T= | CA1398358773 | ADCY5 | c.-111A= (n.-111A=) c.178A= (p.Arg60=) c.1213A= (p.Arg405=) c.163A= (p.Arg55=) n.508A= c.117A= (p.Arg39=) c.112A= (p.Arg38=) c.214A= (p.Arg72=) c.124A= (p.Arg42=) c.115A= (p.Arg39=) | |
3 | g.123352504C>A | CA354222642 | ADCY5 | c.-112G>T (n.-112G>T) c.177G>T (p.Gln59His) c.1212G>T (p.Gln404His) c.162G>T (p.Gln54His) n.507G>T c.116G>T (p.Arg39Ile) c.111G>T (p.Gln37His) c.213G>T (p.Gln71His) c.123G>T (p.Gln41His) c.114G>T (p.Gln38His) | |
3 | g.123352504C>G | CA354222643 | ADCY5 | c.-112G>C (n.-112G>C) c.177G>C (p.Gln59His) c.1212G>C (p.Gln404His) c.162G>C (p.Gln54His) n.507G>C c.116G>C (p.Arg39Thr) c.111G>C (p.Gln37His) c.213G>C (p.Gln71His) c.123G>C (p.Gln41His) c.114G>C (p.Gln38His) | |
3 | g.123352504C>T | CA435296463 | ADCY5 | c.-112G>A (n.-112G>A) c.177G>A (p.Gln59=) c.1212G>A (p.Gln404=) c.162G>A (p.Gln54=) n.507G>A c.116G>A (p.Arg39Lys) c.111G>A (p.Gln37=) c.213G>A (p.Gln71=) c.123G>A (p.Gln41=) c.114G>A (p.Gln38=) | |
3 | g.123352505T>A | CA354222644 | ADCY5 | c.-113A>T (n.-113A>T) c.176A>T (p.Gln59Leu) c.1211A>T (p.Gln404Leu) c.161A>T (p.Gln54Leu) n.506A>T c.115A>T (p.Arg39Ter) c.110A>T (p.Gln37Leu) c.212A>T (p.Gln71Leu) c.122A>T (p.Gln41Leu) c.113A>T (p.Gln38Leu) | |
3 | g.123352505T>C | CA354222645 | ADCY5 | c.-113A>G (n.-113A>G) c.176A>G (p.Gln59Arg) c.1211A>G (p.Gln404Arg) c.161A>G (p.Gln54Arg) n.506A>G c.115A>G (p.Arg39Gly) c.110A>G (p.Gln37Arg) c.212A>G (p.Gln71Arg) c.122A>G (p.Gln41Arg) c.113A>G (p.Gln38Arg) | |
3 | g.123352505T>G | CA354222646 | ADCY5 | c.-113A>C (n.-113A>C) c.176A>C (p.Gln59Pro) c.1211A>C (p.Gln404Pro) c.161A>C (p.Gln54Pro) n.506A>C c.115A>C (p.Arg39=) c.110A>C (p.Gln37Pro) c.212A>C (p.Gln71Pro) c.122A>C (p.Gln41Pro) c.113A>C (p.Gln38Pro) | |
3 | g.123352506G>A | CA354222647 | ADCY5 | c.-114C>T (n.-114C>T) c.175C>T (p.Gln59Ter) c.1210C>T (p.Gln404Ter) c.160C>T (p.Gln54Ter) n.505C>T c.114C>T (p.Pro38=) c.109C>T (p.Gln37Ter) c.211C>T (p.Gln71Ter) c.121C>T (p.Gln41Ter) c.112C>T (p.Gln38Ter) | dbSNP |
3 | g.123352506G>C | CA354222648 | ADCY5 | c.-114C>G (n.-114C>G) c.175C>G (p.Gln59Glu) c.1210C>G (p.Gln404Glu) c.160C>G (p.Gln54Glu) n.505C>G c.114C>G (p.Pro38=) c.109C>G (p.Gln37Glu) c.211C>G (p.Gln71Glu) c.121C>G (p.Gln41Glu) c.112C>G (p.Gln38Glu) | |
3 | g.123352506G= | CA1398358774 | ADCY5 | c.-114C= (n.-114C=) c.175C= (p.Gln59=) c.1210C= (p.Gln404=) c.160C= (p.Gln54=) n.505C= c.114C= (p.Pro38=) c.109C= (p.Gln37=) c.211C= (p.Gln71=) c.121C= (p.Gln41=) c.112C= (p.Gln38=) | |
3 | g.123352506G>T | CA354222649 | ADCY5 | c.-114C>A (n.-114C>A) c.175C>A (p.Gln59Lys) c.1210C>A (p.Gln404Lys) c.160C>A (p.Gln54Lys) n.505C>A c.114C>A (p.Pro38=) c.109C>A (p.Gln37Lys) c.211C>A (p.Gln71Lys) c.121C>A (p.Gln41Lys) c.112C>A (p.Gln38Lys) | |
3 | g.123352507G>A | CA2577527 | ADCY5 | c.-115C>T (n.-115C>T) c.174C>T (p.Ser58=) c.1209C>T (p.Ser403=) c.159C>T (p.Ser53=) n.504C>T c.113C>T (p.Pro38Leu) c.108C>T (p.Ser36=) c.210C>T (p.Ser70=) c.120C>T (p.Ser40=) c.111C>T (p.Ser37=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123352507G>C | CA435296464 | ADCY5 | c.-115C>G (n.-115C>G) c.174C>G (p.Ser58=) c.1209C>G (p.Ser403=) c.159C>G (p.Ser53=) n.504C>G c.113C>G (p.Pro38Arg) c.108C>G (p.Ser36=) c.210C>G (p.Ser70=) c.120C>G (p.Ser40=) c.111C>G (p.Ser37=) | |
3 | g.123352507G= | CA1398358775 | ADCY5 | c.-115C= (n.-115C=) c.174C= (p.Ser58=) c.1209C= (p.Ser403=) c.159C= (p.Ser53=) n.504C= c.113C= (p.Pro38=) c.108C= (p.Ser36=) c.210C= (p.Ser70=) c.120C= (p.Ser40=) c.111C= (p.Ser37=) | |
3 | g.123352507G>T | CA435296465 | ADCY5 | c.-115C>A (n.-115C>A) c.174C>A (p.Ser58=) c.1209C>A (p.Ser403=) c.159C>A (p.Ser53=) n.504C>A c.113C>A (p.Pro38His) c.108C>A (p.Ser36=) c.210C>A (p.Ser70=) c.120C>A (p.Ser40=) c.111C>A (p.Ser37=) | gnomAD v4 |
3 | g.123352508G>A | CA354222652 | ADCY5 | c.-116C>T (n.-116C>T) c.173C>T (p.Ser58Phe) c.1208C>T (p.Ser403Phe) c.158C>T (p.Ser53Phe) n.503C>T c.112C>T (p.Pro38Ser) c.107C>T (p.Ser36Phe) c.209C>T (p.Ser70Phe) c.119C>T (p.Ser40Phe) c.110C>T (p.Ser37Phe) | |
3 | g.123352508G>C | CA354222650 | ADCY5 | c.-116C>G (n.-116C>G) c.173C>G (p.Ser58Cys) c.1208C>G (p.Ser403Cys) c.158C>G (p.Ser53Cys) n.503C>G c.112C>G (p.Pro38Ala) c.107C>G (p.Ser36Cys) c.209C>G (p.Ser70Cys) c.119C>G (p.Ser40Cys) c.110C>G (p.Ser37Cys) | |
3 | g.123352508G>T | CA354222651 | ADCY5 | c.-116C>A (n.-116C>A) c.173C>A (p.Ser58Tyr) c.1208C>A (p.Ser403Tyr) c.158C>A (p.Ser53Tyr) n.503C>A c.112C>A (p.Pro38Thr) c.107C>A (p.Ser36Tyr) c.209C>A (p.Ser70Tyr) c.119C>A (p.Ser40Tyr) c.110C>A (p.Ser37Tyr) | |
3 | g.123352509A>C | CA354222653 | ADCY5 | c.-117T>G (n.-117T>G) c.172T>G (p.Ser58Ala) c.1207T>G (p.Ser403Ala) c.157T>G (p.Ser53Ala) n.502T>G c.111T>G (p.Ser37=) c.106T>G (p.Ser36Ala) c.208T>G (p.Ser70Ala) c.118T>G (p.Ser40Ala) c.109T>G (p.Ser37Ala) | |
3 | g.123352509A>G | CA354222654 | ADCY5 | c.-117T>C (n.-117T>C) c.172T>C (p.Ser58Pro) c.1207T>C (p.Ser403Pro) c.157T>C (p.Ser53Pro) n.502T>C c.111T>C (p.Ser37=) c.106T>C (p.Ser36Pro) c.208T>C (p.Ser70Pro) c.118T>C (p.Ser40Pro) c.109T>C (p.Ser37Pro) | |
3 | g.123352509A>T | CA354222655 | ADCY5 | c.-117T>A (n.-117T>A) c.172T>A (p.Ser58Thr) c.1207T>A (p.Ser403Thr) c.157T>A (p.Ser53Thr) n.502T>A c.111T>A (p.Ser37=) c.106T>A (p.Ser36Thr) c.208T>A (p.Ser70Thr) c.118T>A (p.Ser40Thr) c.109T>A (p.Ser37Thr) | COSMIC |
3 | g.123352510G>A | CA435296466 | ADCY5 | c.-118C>T (n.-118C>T) c.171C>T (p.Val57=) c.1206C>T (p.Val402=) c.156C>T (p.Val52=) n.501C>T c.110C>T (p.Ser37Phe) c.105C>T (p.Val35=) c.207C>T (p.Val69=) c.117C>T (p.Val39=) c.108C>T (p.Val36=) | gnomAD v4 |
3 | g.123352510G>C | CA435296467 | ADCY5 | c.-118C>G (n.-118C>G) c.171C>G (p.Val57=) c.1206C>G (p.Val402=) c.156C>G (p.Val52=) n.501C>G c.110C>G (p.Ser37Cys) c.105C>G (p.Val35=) c.207C>G (p.Val69=) c.117C>G (p.Val39=) c.108C>G (p.Val36=) | |
3 | g.123352510G>T | CA435296468 | ADCY5 | c.-118C>A (n.-118C>A) c.171C>A (p.Val57=) c.1206C>A (p.Val402=) c.156C>A (p.Val52=) n.501C>A c.110C>A (p.Ser37Tyr) c.105C>A (p.Val35=) c.207C>A (p.Val69=) c.117C>A (p.Val39=) c.108C>A (p.Val36=) | |
3 | g.123352511A>C | CA354222656 | ADCY5 | c.-119T>G (n.-119T>G) c.170T>G (p.Val57Gly) c.1205T>G (p.Val402Gly) c.155T>G (p.Val52Gly) n.500T>G c.109T>G (p.Ser37Ala) c.104T>G (p.Val35Gly) c.206T>G (p.Val69Gly) c.116T>G (p.Val39Gly) c.107T>G (p.Val36Gly) | |
3 | g.123352511A>G | CA354222657 | ADCY5 | c.-119T>C (n.-119T>C) c.170T>C (p.Val57Ala) c.1205T>C (p.Val402Ala) c.155T>C (p.Val52Ala) n.500T>C c.109T>C (p.Ser37Pro) c.104T>C (p.Val35Ala) c.206T>C (p.Val69Ala) c.116T>C (p.Val39Ala) c.107T>C (p.Val36Ala) | |
3 | g.123352511A>T | CA354222658 | ADCY5 | c.-119T>A (n.-119T>A) c.170T>A (p.Val57Asp) c.1205T>A (p.Val402Asp) c.155T>A (p.Val52Asp) n.500T>A c.109T>A (p.Ser37Thr) c.104T>A (p.Val35Asp) c.206T>A (p.Val69Asp) c.116T>A (p.Val39Asp) c.107T>A (p.Val36Asp) | |
3 | g.123352512C>A | CA354222659 | ADCY5 | c.-120G>T (n.-120G>T) c.169G>T (p.Val57Phe) c.1204G>T (p.Val402Phe) c.154G>T (p.Val52Phe) n.499G>T c.108G>T (p.Arg36Ser) c.103G>T (p.Val35Phe) c.205G>T (p.Val69Phe) c.115G>T (p.Val39Phe) c.106G>T (p.Val36Phe) | dbSNP gnomAD v4 |
3 | g.123352512C= | CA1398358776 | ADCY5 | c.-120G= (n.-120G=) c.169G= (p.Val57=) c.1204G= (p.Val402=) c.154G= (p.Val52=) n.499G= c.108G= (p.Arg36=) c.103G= (p.Val35=) c.205G= (p.Val69=) c.115G= (p.Val39=) c.106G= (p.Val36=) | |
3 | g.123352512C>G | CA354222660 | ADCY5 | c.-120G>C (n.-120G>C) c.169G>C (p.Val57Leu) c.1204G>C (p.Val402Leu) c.154G>C (p.Val52Leu) n.499G>C c.108G>C (p.Arg36Ser) c.103G>C (p.Val35Leu) c.205G>C (p.Val69Leu) c.115G>C (p.Val39Leu) c.106G>C (p.Val36Leu) | |
3 | g.123352512C>T | CA354222661 | ADCY5 | c.-120G>A (n.-120G>A) c.169G>A (p.Val57Ile) c.1204G>A (p.Val402Ile) c.154G>A (p.Val52Ile) n.499G>A c.108G>A (p.Arg36=) c.103G>A (p.Val35Ile) c.205G>A (p.Val69Ile) c.115G>A (p.Val39Ile) c.106G>A (p.Val36Ile) | dbSNP gnomAD v4 |
3 | g.123352513C>A | CA354222662 | ADCY5 | c.-121G>T (n.-121G>T) c.168G>T (p.Glu56Asp) c.1203G>T (p.Glu401Asp) c.153G>T (p.Glu51Asp) n.498G>T c.107G>T (p.Arg36Met) c.102G>T (p.Glu34Asp) c.204G>T (p.Glu68Asp) c.114G>T (p.Glu38Asp) c.105G>T (p.Glu35Asp) | |
3 | g.123352513C>G | CA354222663 | ADCY5 | c.-121G>C (n.-121G>C) c.168G>C (p.Glu56Asp) c.1203G>C (p.Glu401Asp) c.153G>C (p.Glu51Asp) n.498G>C c.107G>C (p.Arg36Thr) c.102G>C (p.Glu34Asp) c.204G>C (p.Glu68Asp) c.114G>C (p.Glu38Asp) c.105G>C (p.Glu35Asp) | |
3 | g.123352513C>T | CA435296470 | ADCY5 | c.-121G>A (n.-121G>A) c.168G>A (p.Glu56=) c.1203G>A (p.Glu401=) c.153G>A (p.Glu51=) n.498G>A c.107G>A (p.Arg36Lys) c.102G>A (p.Glu34=) c.204G>A (p.Glu68=) c.114G>A (p.Glu38=) c.105G>A (p.Glu35=) | |
3 | g.123352514T>A | CA354222666 | ADCY5 | c.-122A>T (n.-122A>T) c.167A>T (p.Glu56Val) c.1202A>T (p.Glu401Val) c.152A>T (p.Glu51Val) n.497A>T c.106A>T (p.Arg36Trp) c.101A>T (p.Glu34Val) c.203A>T (p.Glu68Val) c.113A>T (p.Glu38Val) c.104A>T (p.Glu35Val) | |
3 | g.123352514T>C | CA354222665 | ADCY5 | c.-122A>G (n.-122A>G) c.167A>G (p.Glu56Gly) c.1202A>G (p.Glu401Gly) c.152A>G (p.Glu51Gly) n.497A>G c.106A>G (p.Arg36Gly) c.101A>G (p.Glu34Gly) c.203A>G (p.Glu68Gly) c.113A>G (p.Glu38Gly) c.104A>G (p.Glu35Gly) | |
3 | g.123352514T>G | CA354222664 | ADCY5 | c.-122A>C (n.-122A>C) c.167A>C (p.Glu56Ala) c.1202A>C (p.Glu401Ala) c.152A>C (p.Glu51Ala) n.497A>C c.106A>C (p.Arg36=) c.101A>C (p.Glu34Ala) c.203A>C (p.Glu68Ala) c.113A>C (p.Glu38Ala) c.104A>C (p.Glu35Ala) | |
3 | g.123352515C>A | CA354222667 | ADCY5 | c.-123G>T (n.-123G>T) c.166G>T (p.Glu56Ter) c.1201G>T (p.Glu401Ter) c.151G>T (p.Glu51Ter) n.496G>T c.105G>T (p.Leu35=) c.100G>T (p.Glu34Ter) c.202G>T (p.Glu68Ter) c.112G>T (p.Glu38Ter) c.103G>T (p.Glu35Ter) | dbSNP |
3 | g.123352515C= | CA1398358777 | ADCY5 | c.-123G= (n.-123G=) c.166G= (p.Glu56=) c.1201G= (p.Glu401=) c.151G= (p.Glu51=) n.496G= c.105G= (p.Leu35=) c.100G= (p.Glu34=) c.202G= (p.Glu68=) c.112G= (p.Glu38=) c.103G= (p.Glu35=) | |
3 | g.123352515C>G | CA354222668 | ADCY5 | c.-123G>C (n.-123G>C) c.166G>C (p.Glu56Gln) c.1201G>C (p.Glu401Gln) c.151G>C (p.Glu51Gln) n.496G>C c.105G>C (p.Leu35=) c.100G>C (p.Glu34Gln) c.202G>C (p.Glu68Gln) c.112G>C (p.Glu38Gln) c.103G>C (p.Glu35Gln) | |
3 | g.123352515C>T | CA354222669 | ADCY5 | c.-123G>A (n.-123G>A) c.166G>A (p.Glu56Lys) c.1201G>A (p.Glu401Lys) c.151G>A (p.Glu51Lys) n.496G>A c.105G>A (p.Leu35=) c.100G>A (p.Glu34Lys) c.202G>A (p.Glu68Lys) c.112G>A (p.Glu38Lys) c.103G>A (p.Glu35Lys) | |
3 | g.123352516A>C | CA435296474 | ADCY5 | c.-124T>G (n.-124T>G) c.165T>G (p.Ala55=) c.1200T>G (p.Ala400=) c.150T>G (p.Ala50=) n.495T>G c.104T>G (p.Leu35Arg) c.99T>G (p.Ala33=) c.201T>G (p.Ala67=) c.111T>G (p.Ala37=) c.102T>G (p.Ala34=) | |
3 | g.123352516A>G | CA435296475 | ADCY5 | c.-124T>C (n.-124T>C) c.165T>C (p.Ala55=) c.1200T>C (p.Ala400=) c.150T>C (p.Ala50=) n.495T>C c.104T>C (p.Leu35Pro) c.99T>C (p.Ala33=) c.201T>C (p.Ala67=) c.111T>C (p.Ala37=) c.102T>C (p.Ala34=) | gnomAD v4 |
3 | g.123352516A>T | CA435296477 | ADCY5 | c.-124T>A (n.-124T>A) c.165T>A (p.Ala55=) c.1200T>A (p.Ala400=) c.150T>A (p.Ala50=) n.495T>A c.104T>A (p.Leu35Gln) c.99T>A (p.Ala33=) c.201T>A (p.Ala67=) c.111T>A (p.Ala37=) c.102T>A (p.Ala34=) | |
3 | g.123352517G>A | CA354222670 | ADCY5 | c.-125C>T (n.-125C>T) c.164C>T (p.Ala55Val) c.1199C>T (p.Ala400Val) c.149C>T (p.Ala50Val) n.494C>T c.103C>T (p.Leu35=) c.98C>T (p.Ala33Val) c.200C>T (p.Ala67Val) c.110C>T (p.Ala37Val) c.101C>T (p.Ala34Val) | |
3 | g.123352517G>C | CA354222671 | ADCY5 | c.-125C>G (n.-125C>G) c.164C>G (p.Ala55Gly) c.1199C>G (p.Ala400Gly) c.149C>G (p.Ala50Gly) n.494C>G c.103C>G (p.Leu35Val) c.98C>G (p.Ala33Gly) c.200C>G (p.Ala67Gly) c.110C>G (p.Ala37Gly) c.101C>G (p.Ala34Gly) | |
3 | g.123352517G>T | CA354222672 | ADCY5 | c.-125C>A (n.-125C>A) c.164C>A (p.Ala55Asp) c.1199C>A (p.Ala400Asp) c.149C>A (p.Ala50Asp) n.494C>A c.103C>A (p.Leu35Met) c.98C>A (p.Ala33Asp) c.200C>A (p.Ala67Asp) c.110C>A (p.Ala37Asp) c.101C>A (p.Ala34Asp) | |
3 | g.123352518C>A | CA354222673 | ADCY5 | c.-126G>T (n.-126G>T) c.163G>T (p.Ala55Ser) c.1198G>T (p.Ala400Ser) c.148G>T (p.Ala50Ser) n.493G>T c.102G>T (p.Arg34=) c.97G>T (p.Ala33Ser) c.199G>T (p.Ala67Ser) c.109G>T (p.Ala37Ser) c.100G>T (p.Ala34Ser) | dbSNP |
3 | g.123352518C>G | CA354222674 | ADCY5 | c.-126G>C (n.-126G>C) c.163G>C (p.Ala55Pro) c.1198G>C (p.Ala400Pro) c.148G>C (p.Ala50Pro) n.493G>C c.102G>C (p.Arg34=) c.97G>C (p.Ala33Pro) c.199G>C (p.Ala67Pro) c.109G>C (p.Ala37Pro) c.100G>C (p.Ala34Pro) | |
3 | g.123352518C>T | CA354222675 | ADCY5 | c.-126G>A (n.-126G>A) c.163G>A (p.Ala55Thr) c.1198G>A (p.Ala400Thr) c.148G>A (p.Ala50Thr) n.493G>A c.102G>A (p.Arg34=) c.97G>A (p.Ala33Thr) c.199G>A (p.Ala67Thr) c.109G>A (p.Ala37Thr) c.100G>A (p.Ala34Thr) | |
3 | g.123352519C>A | CA435296485 | ADCY5 | c.-127G>T (n.-127G>T) c.162G>T (p.Pro54=) c.1197G>T (p.Pro399=) c.147G>T (p.Pro49=) n.492G>T c.101G>T (p.Arg34Leu) c.96G>T (p.Pro32=) c.198G>T (p.Pro66=) c.108G>T (p.Pro36=) c.99G>T (p.Pro33=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123352519C= | CA1398358778 | ADCY5 | c.-127G= (n.-127G=) c.162G= (p.Pro54=) c.1197G= (p.Pro399=) c.147G= (p.Pro49=) n.492G= c.101G= (p.Arg34=) c.96G= (p.Pro32=) c.198G= (p.Pro66=) c.108G= (p.Pro36=) c.99G= (p.Pro33=) | |
3 | g.123352519C>G | CA435296483 | ADCY5 | c.-127G>C (n.-127G>C) c.162G>C (p.Pro54=) c.1197G>C (p.Pro399=) c.147G>C (p.Pro49=) n.492G>C c.101G>C (p.Arg34Pro) c.96G>C (p.Pro32=) c.198G>C (p.Pro66=) c.108G>C (p.Pro36=) c.99G>C (p.Pro33=) | |
3 | g.123352519C>T | CA2577528 | ADCY5 | c.-127G>A (n.-127G>A) c.162G>A (p.Pro54=) c.1197G>A (p.Pro399=) c.147G>A (p.Pro49=) n.492G>A c.101G>A (p.Arg34Gln) c.96G>A (p.Pro32=) c.198G>A (p.Pro66=) c.108G>A (p.Pro36=) c.99G>A (p.Pro33=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123352520G>A | CA354222676 | ADCY5 | c.-128C>T (n.-128C>T) c.161C>T (p.Pro54Leu) c.1196C>T (p.Pro399Leu) c.146C>T (p.Pro49Leu) n.491C>T c.100C>T (p.Arg34Trp) c.95C>T (p.Pro32Leu) c.197C>T (p.Pro66Leu) c.107C>T (p.Pro36Leu) c.98C>T (p.Pro33Leu) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
3 | g.123352520G>C | CA354222677 | ADCY5 | c.-128C>G (n.-128C>G) c.161C>G (p.Pro54Arg) c.1196C>G (p.Pro399Arg) c.146C>G (p.Pro49Arg) n.491C>G c.100C>G (p.Arg34Gly) c.95C>G (p.Pro32Arg) c.197C>G (p.Pro66Arg) c.107C>G (p.Pro36Arg) c.98C>G (p.Pro33Arg) | |
3 | g.123352520G= | CA1398358779 | ADCY5 | c.-128C= (n.-128C=) c.161C= (p.Pro54=) c.1196C= (p.Pro399=) c.146C= (p.Pro49=) n.491C= c.100C= (p.Arg34=) c.95C= (p.Pro32=) c.197C= (p.Pro66=) c.107C= (p.Pro36=) c.98C= (p.Pro33=) | |
3 | g.123352520G>T | CA354222678 | ADCY5 | c.-128C>A (n.-128C>A) c.161C>A (p.Pro54Gln) c.1196C>A (p.Pro399Gln) c.146C>A (p.Pro49Gln) n.491C>A c.100C>A (p.Arg34=) c.95C>A (p.Pro32Gln) c.197C>A (p.Pro66Gln) c.107C>A (p.Pro36Gln) c.98C>A (p.Pro33Gln) | |
3 | g.123352521G>A | CA354222680 | ADCY5 | c.-129C>T (n.-129C>T) c.160C>T (p.Pro54Ser) c.1195C>T (p.Pro399Ser) c.145C>T (p.Pro49Ser) n.490C>T c.99C>T (p.Ile33=) c.94C>T (p.Pro32Ser) c.196C>T (p.Pro66Ser) c.106C>T (p.Pro36Ser) c.97C>T (p.Pro33Ser) | |
3 | g.123352521G>C | CA354222681 | ADCY5 | c.-129C>G (n.-129C>G) c.160C>G (p.Pro54Ala) c.1195C>G (p.Pro399Ala) c.145C>G (p.Pro49Ala) n.490C>G c.99C>G (p.Ile33Met) c.94C>G (p.Pro32Ala) c.196C>G (p.Pro66Ala) c.106C>G (p.Pro36Ala) c.97C>G (p.Pro33Ala) | |
3 | g.123352521G>T | CA354222679 | ADCY5 | c.-129C>A (n.-129C>A) c.160C>A (p.Pro54Thr) c.1195C>A (p.Pro399Thr) c.145C>A (p.Pro49Thr) n.490C>A c.99C>A (p.Ile33=) c.94C>A (p.Pro32Thr) c.196C>A (p.Pro66Thr) c.106C>A (p.Pro36Thr) c.97C>A (p.Pro33Thr) | |
3 | g.123352522A>C | CA354222682 | ADCY5 | c.-130T>G (n.-130T>G) c.159T>G (p.Tyr53Ter) c.1194T>G (p.Tyr398Ter) c.144T>G (p.Tyr48Ter) n.489T>G c.98T>G (p.Ile33Ser) c.93T>G (p.Tyr31Ter) c.195T>G (p.Tyr65Ter) c.105T>G (p.Tyr35Ter) c.96T>G (p.Tyr32Ter) | gnomAD v4 |
3 | g.123352522A>G | CA435296492 | ADCY5 | c.-130T>C (n.-130T>C) c.159T>C (p.Tyr53=) c.1194T>C (p.Tyr398=) c.144T>C (p.Tyr48=) n.489T>C c.98T>C (p.Ile33Thr) c.93T>C (p.Tyr31=) c.195T>C (p.Tyr65=) c.105T>C (p.Tyr35=) c.96T>C (p.Tyr32=) | |
3 | g.123352522A>T | CA354222683 | ADCY5 | c.-130T>A (n.-130T>A) c.159T>A (p.Tyr53Ter) c.1194T>A (p.Tyr398Ter) c.144T>A (p.Tyr48Ter) n.489T>A c.98T>A (p.Ile33Asn) c.93T>A (p.Tyr31Ter) c.195T>A (p.Tyr65Ter) c.105T>A (p.Tyr35Ter) c.96T>A (p.Tyr32Ter) | |
3 | g.123352523T>A | CA354222684 | ADCY5 | c.-131A>T (n.-131A>T) c.158A>T (p.Tyr53Phe) c.1193A>T (p.Tyr398Phe) c.143A>T (p.Tyr48Phe) n.488A>T c.97A>T (p.Ile33Phe) c.92A>T (p.Tyr31Phe) c.194A>T (p.Tyr65Phe) c.104A>T (p.Tyr35Phe) c.95A>T (p.Tyr32Phe) | gnomAD v4 |
3 | g.123352523T>C | CA354222685 | ADCY5 | c.-131A>G (n.-131A>G) c.158A>G (p.Tyr53Cys) c.1193A>G (p.Tyr398Cys) c.143A>G (p.Tyr48Cys) n.488A>G c.97A>G (p.Ile33Val) c.92A>G (p.Tyr31Cys) c.194A>G (p.Tyr65Cys) c.104A>G (p.Tyr35Cys) c.95A>G (p.Tyr32Cys) | |
3 | g.123352523T>G | CA354222686 | ADCY5 | c.-131A>C (n.-131A>C) c.158A>C (p.Tyr53Ser) c.1193A>C (p.Tyr398Ser) c.143A>C (p.Tyr48Ser) n.488A>C c.97A>C (p.Ile33Leu) c.92A>C (p.Tyr31Ser) c.194A>C (p.Tyr65Ser) c.104A>C (p.Tyr35Ser) c.95A>C (p.Tyr32Ser) | dbSNP gnomAD v4 |
3 | g.123352524A>C | CA354222687 | ADCY5 | c.-132T>G (n.-132T>G) c.157T>G (p.Tyr53Asp) c.1192T>G (p.Tyr398Asp) c.142T>G (p.Tyr48Asp) n.487T>G c.96T>G (p.Thr32=) c.91T>G (p.Tyr31Asp) c.193T>G (p.Tyr65Asp) c.103T>G (p.Tyr35Asp) c.94T>G (p.Tyr32Asp) | |
3 | g.123352524A>G | CA354222688 | ADCY5 | c.-132T>C (n.-132T>C) c.157T>C (p.Tyr53His) c.1192T>C (p.Tyr398His) c.142T>C (p.Tyr48His) n.487T>C c.96T>C (p.Thr32=) c.91T>C (p.Tyr31His) c.193T>C (p.Tyr65His) c.103T>C (p.Tyr35His) c.94T>C (p.Tyr32His) | |
3 | g.123352524A>T | CA354222689 | ADCY5 | c.-132T>A (n.-132T>A) c.157T>A (p.Tyr53Asn) c.1192T>A (p.Tyr398Asn) c.142T>A (p.Tyr48Asn) n.487T>A c.96T>A (p.Thr32=) c.91T>A (p.Tyr31Asn) c.193T>A (p.Tyr65Asn) c.103T>A (p.Tyr35Asn) c.94T>A (p.Tyr32Asn) | |
3 | g.123352525G>A | CA435296499 | ADCY5 | c.-133C>T (n.-133C>T) c.156C>T (p.His52=) c.1191C>T (p.His397=) c.141C>T (p.His47=) n.486C>T c.95C>T (p.Thr32Ile) c.90C>T (p.His30=) c.192C>T (p.His64=) c.102C>T (p.His34=) c.93C>T (p.His31=) | |
3 | g.123352525G>C | CA354222690 | ADCY5 | c.-133C>G (n.-133C>G) c.156C>G (p.His52Gln) c.1191C>G (p.His397Gln) c.141C>G (p.His47Gln) n.486C>G c.95C>G (p.Thr32Ser) c.90C>G (p.His30Gln) c.192C>G (p.His64Gln) c.102C>G (p.His34Gln) c.93C>G (p.His31Gln) | |
3 | g.123352525G>T | CA354222691 | ADCY5 | c.-133C>A (n.-133C>A) c.156C>A (p.His52Gln) c.1191C>A (p.His397Gln) c.141C>A (p.His47Gln) n.486C>A c.95C>A (p.Thr32Asn) c.90C>A (p.His30Gln) c.192C>A (p.His64Gln) c.102C>A (p.His34Gln) c.93C>A (p.His31Gln) | |
3 | g.123352526T>A | CA354222692 | ADCY5 | c.-134A>T (n.-134A>T) c.155A>T (p.His52Leu) c.1190A>T (p.His397Leu) c.140A>T (p.His47Leu) n.485A>T c.94A>T (p.Thr32Ser) c.89A>T (p.His30Leu) c.191A>T (p.His64Leu) c.101A>T (p.His34Leu) c.92A>T (p.His31Leu) | |
3 | g.123352526T>C | CA354222693 | ADCY5 | c.-134A>G (n.-134A>G) c.155A>G (p.His52Arg) c.1190A>G (p.His397Arg) c.140A>G (p.His47Arg) n.485A>G c.94A>G (p.Thr32Ala) c.89A>G (p.His30Arg) c.191A>G (p.His64Arg) c.101A>G (p.His34Arg) c.92A>G (p.His31Arg) | |
3 | g.123352526T>G | CA354222694 | ADCY5 | c.-134A>C (n.-134A>C) c.155A>C (p.His52Pro) c.1190A>C (p.His397Pro) c.140A>C (p.His47Pro) n.485A>C c.94A>C (p.Thr32Pro) c.89A>C (p.His30Pro) c.191A>C (p.His64Pro) c.101A>C (p.His34Pro) c.92A>C (p.His31Pro) | |
3 | g.123352527G>A | CA354222695 | ADCY5 | c.-135C>T (n.-135C>T) c.154C>T (p.His52Tyr) c.1189C>T (p.His397Tyr) c.139C>T (p.His47Tyr) n.484C>T c.93C>T (p.Pro31=) c.88C>T (p.His30Tyr) c.190C>T (p.His64Tyr) c.100C>T (p.His34Tyr) c.91C>T (p.His31Tyr) | |
3 | g.123352527G>C | CA354222697 | ADCY5 | c.-135C>G (n.-135C>G) c.154C>G (p.His52Asp) c.1189C>G (p.His397Asp) c.139C>G (p.His47Asp) n.484C>G c.93C>G (p.Pro31=) c.88C>G (p.His30Asp) c.190C>G (p.His64Asp) c.100C>G (p.His34Asp) c.91C>G (p.His31Asp) | |
3 | g.123352527G>T | CA354222696 | ADCY5 | c.-135C>A (n.-135C>A) c.154C>A (p.His52Asn) c.1189C>A (p.His397Asn) c.139C>A (p.His47Asn) n.484C>A c.93C>A (p.Pro31=) c.88C>A (p.His30Asn) c.190C>A (p.His64Asn) c.100C>A (p.His34Asn) c.91C>A (p.His31Asn) | |
3 | g.123352528G>A | CA435296506 | ADCY5 | c.-136C>T (n.-136C>T) c.153C>T (p.Thr51=) c.1188C>T (p.Thr396=) c.138C>T (p.Thr46=) n.483C>T c.92C>T (p.Pro31Leu) c.87C>T (p.Thr29=) c.189C>T (p.Thr63=) c.99C>T (p.Thr33=) c.90C>T (p.Thr30=) | gnomAD v4 |
3 | g.123352528G>C | CA435296508 | ADCY5 | c.-136C>G (n.-136C>G) c.153C>G (p.Thr51=) c.1188C>G (p.Thr396=) c.138C>G (p.Thr46=) n.483C>G c.92C>G (p.Pro31Arg) c.87C>G (p.Thr29=) c.189C>G (p.Thr63=) c.99C>G (p.Thr33=) c.90C>G (p.Thr30=) | |
3 | g.123352528G>T | CA435296509 | ADCY5 | c.-136C>A (n.-136C>A) c.153C>A (p.Thr51=) c.1188C>A (p.Thr396=) c.138C>A (p.Thr46=) n.483C>A c.92C>A (p.Pro31His) c.87C>A (p.Thr29=) c.189C>A (p.Thr63=) c.99C>A (p.Thr33=) c.90C>A (p.Thr30=) | |
3 | g.123352529G>A | CA354222698 | ADCY5 | c.-137C>T (n.-137C>T) c.152C>T (p.Thr51Ile) c.1187C>T (p.Thr396Ile) c.137C>T (p.Thr46Ile) n.482C>T c.91C>T (p.Pro31Ser) c.86C>T (p.Thr29Ile) c.188C>T (p.Thr63Ile) c.98C>T (p.Thr33Ile) c.89C>T (p.Thr30Ile) | |
3 | g.123352529G>C | CA2577529 | ADCY5 | c.-137C>G (n.-137C>G) c.152C>G (p.Thr51Ser) c.1187C>G (p.Thr396Ser) c.137C>G (p.Thr46Ser) n.482C>G c.91C>G (p.Pro31Ala) c.86C>G (p.Thr29Ser) c.188C>G (p.Thr63Ser) c.98C>G (p.Thr33Ser) c.89C>G (p.Thr30Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123352529G= | CA1398358780 | ADCY5 | c.-137C= (n.-137C=) c.152C= (p.Thr51=) c.1187C= (p.Thr396=) c.137C= (p.Thr46=) n.482C= c.91C= (p.Pro31=) c.86C= (p.Thr29=) c.188C= (p.Thr63=) c.98C= (p.Thr33=) c.89C= (p.Thr30=) | |
3 | g.123352529G>T | CA354222699 | ADCY5 | c.-137C>A (n.-137C>A) c.152C>A (p.Thr51Asn) c.1187C>A (p.Thr396Asn) c.137C>A (p.Thr46Asn) n.482C>A c.91C>A (p.Pro31Thr) c.86C>A (p.Thr29Asn) c.188C>A (p.Thr63Asn) c.98C>A (p.Thr33Asn) c.89C>A (p.Thr30Asn) | |
3 | g.123352530T>A | CA354222700 | ADCY5 | c.-138A>T (n.-138A>T) c.151A>T (p.Thr51Ser) c.1186A>T (p.Thr396Ser) c.136A>T (p.Thr46Ser) n.481A>T c.90A>T (p.Ala30=) c.85A>T (p.Thr29Ser) c.187A>T (p.Thr63Ser) c.97A>T (p.Thr33Ser) c.88A>T (p.Thr30Ser) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.123352530T>C | CA354222701 | ADCY5 | c.-138A>G (n.-138A>G) c.151A>G (p.Thr51Ala) c.1186A>G (p.Thr396Ala) c.136A>G (p.Thr46Ala) n.481A>G c.90A>G (p.Ala30=) c.85A>G (p.Thr29Ala) c.187A>G (p.Thr63Ala) c.97A>G (p.Thr33Ala) c.88A>G (p.Thr30Ala) | |
3 | g.123352530T>G | CA354222702 | ADCY5 | c.-138A>C (n.-138A>C) c.151A>C (p.Thr51Pro) c.1186A>C (p.Thr396Pro) c.136A>C (p.Thr46Pro) n.481A>C c.90A>C (p.Ala30=) c.85A>C (p.Thr29Pro) c.187A>C (p.Thr63Pro) c.97A>C (p.Thr33Pro) c.88A>C (p.Thr30Pro) | |
3 | g.123352530T= | CA1398358781 | ADCY5 | c.-138A= (n.-138A=) c.151A= (p.Thr51=) c.1186A= (p.Thr396=) c.136A= (p.Thr46=) n.481A= c.90A= (p.Ala30=) c.85A= (p.Thr29=) c.187A= (p.Thr63=) c.97A= (p.Thr33=) c.88A= (p.Thr30=) | |
3 | g.123352531G>A | CA435296515 | ADCY5 | c.-139C>T (n.-139C>T) c.150C>T (p.Cys50=) c.1185C>T (p.Cys395=) c.135C>T (p.Cys45=) n.480C>T c.89C>T (p.Ala30Val) c.84C>T (p.Cys28=) c.186C>T (p.Cys62=) c.96C>T (p.Cys32=) c.87C>T (p.Cys29=) | |
3 | g.123352531G>C | CA354222703 | ADCY5 | c.-139C>G (n.-139C>G) c.150C>G (p.Cys50Trp) c.1185C>G (p.Cys395Trp) c.135C>G (p.Cys45Trp) n.480C>G c.89C>G (p.Ala30Gly) c.84C>G (p.Cys28Trp) c.186C>G (p.Cys62Trp) c.96C>G (p.Cys32Trp) c.87C>G (p.Cys29Trp) | |
3 | g.123352531G= | CA1398358782 | ADCY5 | c.-139C= (n.-139C=) c.150C= (p.Cys50=) c.1185C= (p.Cys395=) c.135C= (p.Cys45=) n.480C= c.89C= (p.Ala30=) c.84C= (p.Cys28=) c.186C= (p.Cys62=) c.96C= (p.Cys32=) c.87C= (p.Cys29=) | |
3 | g.123352531G>T | CA354222704 | ADCY5 | c.-139C>A (n.-139C>A) c.150C>A (p.Cys50Ter) c.1185C>A (p.Cys395Ter) c.135C>A (p.Cys45Ter) n.480C>A c.89C>A (p.Ala30Glu) c.84C>A (p.Cys28Ter) c.186C>A (p.Cys62Ter) c.96C>A (p.Cys32Ter) c.87C>A (p.Cys29Ter) | dbSNP gnomAD v4 |
3 | g.123352532C>A | CA354222705 | ADCY5 | c.-140G>T (n.-140G>T) c.149G>T (p.Cys50Phe) c.1184G>T (p.Cys395Phe) c.134G>T (p.Cys45Phe) n.479G>T c.88G>T (p.Ala30Ser) c.83G>T (p.Cys28Phe) c.185G>T (p.Cys62Phe) c.95G>T (p.Cys32Phe) c.86G>T (p.Cys29Phe) | |
3 | g.123352532C>G | CA354222706 | ADCY5 | c.-140G>C (n.-140G>C) c.149G>C (p.Cys50Ser) c.1184G>C (p.Cys395Ser) c.134G>C (p.Cys45Ser) n.479G>C c.88G>C (p.Ala30Pro) c.83G>C (p.Cys28Ser) c.185G>C (p.Cys62Ser) c.95G>C (p.Cys32Ser) c.86G>C (p.Cys29Ser) | |
3 | g.123352532C>T | CA354222707 | ADCY5 | c.-140G>A (n.-140G>A) c.149G>A (p.Cys50Tyr) c.1184G>A (p.Cys395Tyr) c.134G>A (p.Cys45Tyr) n.479G>A c.88G>A (p.Ala30Thr) c.83G>A (p.Cys28Tyr) c.185G>A (p.Cys62Tyr) c.95G>A (p.Cys32Tyr) c.86G>A (p.Cys29Tyr) | ClinVar |
3 | g.123352533A>C | CA354222709 | ADCY5 | c.-141T>G (n.-141T>G) c.148T>G (p.Cys50Gly) c.1183T>G (p.Cys395Gly) c.133T>G (p.Cys45Gly) n.478T>G c.87T>G (p.Ser29=) c.82T>G (p.Cys28Gly) c.184T>G (p.Cys62Gly) c.94T>G (p.Cys32Gly) c.85T>G (p.Cys29Gly) | |
3 | g.123352533A>G | CA354222710 | ADCY5 | c.-141T>C (n.-141T>C) c.148T>C (p.Cys50Arg) c.1183T>C (p.Cys395Arg) c.133T>C (p.Cys45Arg) n.478T>C c.87T>C (p.Ser29=) c.82T>C (p.Cys28Arg) c.184T>C (p.Cys62Arg) c.94T>C (p.Cys32Arg) c.85T>C (p.Cys29Arg) | |
3 | g.123352533A>T | CA354222708 | ADCY5 | c.-141T>A (n.-141T>A) c.148T>A (p.Cys50Ser) c.1183T>A (p.Cys395Ser) c.133T>A (p.Cys45Ser) n.478T>A c.87T>A (p.Ser29=) c.82T>A (p.Cys28Ser) c.184T>A (p.Cys62Ser) c.94T>A (p.Cys32Ser) c.85T>A (p.Cys29Ser) | |
3 | g.123352534G>A | CA435296523 | ADCY5 | c.-142C>T (n.-142C>T) c.147C>T (p.Val49=) c.1182C>T (p.Val394=) c.132C>T (p.Val44=) n.477C>T c.86C>T (p.Ser29Phe) c.81C>T (p.Val27=) c.183C>T (p.Val61=) c.93C>T (p.Val31=) c.84C>T (p.Val28=) | |
3 | g.123352534G>C | CA435296524 | ADCY5 | c.-142C>G (n.-142C>G) c.147C>G (p.Val49=) c.1182C>G (p.Val394=) c.132C>G (p.Val44=) n.477C>G c.86C>G (p.Ser29Cys) c.81C>G (p.Val27=) c.183C>G (p.Val61=) c.93C>G (p.Val31=) c.84C>G (p.Val28=) | |
3 | g.123352534G>T | CA435296525 | ADCY5 | c.-142C>A (n.-142C>A) c.147C>A (p.Val49=) c.1182C>A (p.Val394=) c.132C>A (p.Val44=) n.477C>A c.86C>A (p.Ser29Tyr) c.81C>A (p.Val27=) c.183C>A (p.Val61=) c.93C>A (p.Val31=) c.84C>A (p.Val28=) | |
3 | g.123352535A>C | CA354222713 | ADCY5 | c.-143T>G (n.-143T>G) c.146T>G (p.Val49Gly) c.1181T>G (p.Val394Gly) c.131T>G (p.Val44Gly) n.476T>G c.85T>G (p.Ser29Ala) c.80T>G (p.Val27Gly) c.182T>G (p.Val61Gly) c.92T>G (p.Val31Gly) c.83T>G (p.Val28Gly) | |
3 | g.123352535A>G | CA354222711 | ADCY5 | c.-143T>C (n.-143T>C) c.146T>C (p.Val49Ala) c.1181T>C (p.Val394Ala) c.131T>C (p.Val44Ala) n.476T>C c.85T>C (p.Ser29Pro) c.80T>C (p.Val27Ala) c.182T>C (p.Val61Ala) c.92T>C (p.Val31Ala) c.83T>C (p.Val28Ala) | |
3 | g.123352535A>T | CA354222712 | ADCY5 | c.-143T>A (n.-143T>A) c.146T>A (p.Val49Asp) c.1181T>A (p.Val394Asp) c.131T>A (p.Val44Asp) n.476T>A c.85T>A (p.Ser29Thr) c.80T>A (p.Val27Asp) c.182T>A (p.Val61Asp) c.92T>A (p.Val31Asp) c.83T>A (p.Val28Asp) | |
3 | g.123352536C>A | CA354222714 | ADCY5 | c.-144G>T (n.-144G>T) c.145G>T (p.Val49Phe) c.1180G>T (p.Val394Phe) c.130G>T (p.Val44Phe) n.475G>T c.84G>T (p.Val28=) c.79G>T (p.Val27Phe) c.181G>T (p.Val61Phe) c.91G>T (p.Val31Phe) c.82G>T (p.Val28Phe) | |
3 | g.123352536C= | CA1398358783 | ADCY5 | c.-144G= (n.-144G=) c.145G= (p.Val49=) c.1180G= (p.Val394=) c.130G= (p.Val44=) n.475G= c.84G= (p.Val28=) c.79G= (p.Val27=) c.181G= (p.Val61=) c.91G= (p.Val31=) c.82G= (p.Val28=) | |
3 | g.123352536C>G | CA354222715 | ADCY5 | c.-144G>C (n.-144G>C) c.145G>C (p.Val49Leu) c.1180G>C (p.Val394Leu) c.130G>C (p.Val44Leu) n.475G>C c.84G>C (p.Val28=) c.79G>C (p.Val27Leu) c.181G>C (p.Val61Leu) c.91G>C (p.Val31Leu) c.82G>C (p.Val28Leu) | |
3 | g.123352536C>T | CA2577530 | ADCY5 | c.-144G>A (n.-144G>A) c.145G>A (p.Val49Ile) c.1180G>A (p.Val394Ile) c.130G>A (p.Val44Ile) n.475G>A c.84G>A (p.Val28=) c.79G>A (p.Val27Ile) c.181G>A (p.Val61Ile) c.91G>A (p.Val31Ile) c.82G>A (p.Val28Ile) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123352536_123352537insGTCT | CA1398358784 | ADCY5 | c.-145_-144insAGAC (n.-145_-144insAGAC) c.144_145insAGAC (p.Val49ArgfsTer9) c.1179_1180insAGAC (p.Val394ArgfsTer9) c.129_130insAGAC (p.Val44ArgfsTer9) n.474_475insAGAC c.83_84insAGAC (p.Ser29AspfsTer?) c.78_79insAGAC (p.Val27ArgfsTer9) c.180_181insAGAC (p.Val61ArgfsTer9) c.90_91insAGAC (p.Val31ArgfsTer9) c.81_82insAGAC (p.Val28ArgfsTer9) | dbSNP |
3 | g.123352537A>C | CA435296532 | ADCY5 | c.-145T>G (n.-145T>G) c.144T>G (p.Gly48=) c.1179T>G (p.Gly393=) c.129T>G (p.Gly43=) n.474T>G c.83T>G (p.Val28Gly) c.78T>G (p.Gly26=) c.180T>G (p.Gly60=) c.90T>G (p.Gly30=) c.81T>G (p.Gly27=) | |
3 | g.123352537A>G | CA435296533 | ADCY5 | c.-145T>C (n.-145T>C) c.144T>C (p.Gly48=) c.1179T>C (p.Gly393=) c.129T>C (p.Gly43=) n.474T>C c.83T>C (p.Val28Ala) c.78T>C (p.Gly26=) c.180T>C (p.Gly60=) c.90T>C (p.Gly30=) c.81T>C (p.Gly27=) | |
3 | g.123352537A>T | CA435296535 | ADCY5 | c.-145T>A (n.-145T>A) c.144T>A (p.Gly48=) c.1179T>A (p.Gly393=) c.129T>A (p.Gly43=) n.474T>A c.83T>A (p.Val28Glu) c.78T>A (p.Gly26=) c.180T>A (p.Gly60=) c.90T>A (p.Gly30=) c.81T>A (p.Gly27=) | |
3 | g.123352538C>A | CA354222718 | ADCY5 | c.-146G>T (n.-146G>T) c.143G>T (p.Gly48Val) c.1178G>T (p.Gly393Val) c.128G>T (p.Gly43Val) n.473G>T c.82G>T (p.Val28Leu) c.77G>T (p.Gly26Val) c.179G>T (p.Gly60Val) c.89G>T (p.Gly30Val) c.80G>T (p.Gly27Val) | |
3 | g.123352538C>G | CA354222717 | ADCY5 | c.-146G>C (n.-146G>C) c.143G>C (p.Gly48Ala) c.1178G>C (p.Gly393Ala) c.128G>C (p.Gly43Ala) n.473G>C c.82G>C (p.Val28Leu) c.77G>C (p.Gly26Ala) c.179G>C (p.Gly60Ala) c.89G>C (p.Gly30Ala) c.80G>C (p.Gly27Ala) | |
3 | g.123352538C>T | CA354222716 | ADCY5 | c.-146G>A (n.-146G>A) c.143G>A (p.Gly48Asp) c.1178G>A (p.Gly393Asp) c.128G>A (p.Gly43Asp) n.473G>A c.82G>A (p.Val28Met) c.77G>A (p.Gly26Asp) c.179G>A (p.Gly60Asp) c.89G>A (p.Gly30Asp) c.80G>A (p.Gly27Asp) | |
3 | g.123352539C>A | CA354222719 | ADCY5 | c.-147G>T (n.-147G>T) c.142G>T (p.Gly48Cys) c.1177G>T (p.Gly393Cys) c.127G>T (p.Gly43Cys) n.472G>T c.81G>T (p.Trp27Cys) c.76G>T (p.Gly26Cys) c.178G>T (p.Gly60Cys) c.88G>T (p.Gly30Cys) c.79G>T (p.Gly27Cys) | |
3 | g.123352539C>G | CA354222720 | ADCY5 | c.-147G>C (n.-147G>C) c.142G>C (p.Gly48Arg) c.1177G>C (p.Gly393Arg) c.127G>C (p.Gly43Arg) n.472G>C c.81G>C (p.Trp27Cys) c.76G>C (p.Gly26Arg) c.178G>C (p.Gly60Arg) c.88G>C (p.Gly30Arg) c.79G>C (p.Gly27Arg) | |
3 | g.123352539C>T | CA354222721 | ADCY5 | c.-147G>A (n.-147G>A) c.142G>A (p.Gly48Ser) c.1177G>A (p.Gly393Ser) c.127G>A (p.Gly43Ser) n.472G>A c.81G>A (p.Trp27Ter) c.76G>A (p.Gly26Ser) c.178G>A (p.Gly60Ser) c.88G>A (p.Gly30Ser) c.79G>A (p.Gly27Ser) | gnomAD v4 |
3 | g.123352540C>A | CA435296542 | ADCY5 | c.-148G>T (n.-148G>T) c.141G>T (p.Val47=) c.1176G>T (p.Val392=) c.126G>T (p.Val42=) n.471G>T c.80G>T (p.Trp27Leu) c.75G>T (p.Val25=) c.177G>T (p.Val59=) c.87G>T (p.Val29=) c.78G>T (p.Val26=) | |
3 | g.123352540C>G | CA435296543 | ADCY5 | c.-148G>C (n.-148G>C) c.141G>C (p.Val47=) c.1176G>C (p.Val392=) c.126G>C (p.Val42=) n.471G>C c.80G>C (p.Trp27Ser) c.75G>C (p.Val25=) c.177G>C (p.Val59=) c.87G>C (p.Val29=) c.78G>C (p.Val26=) | |
3 | g.123352540C>T | CA435296545 | ADCY5 | c.-148G>A (n.-148G>A) c.141G>A (p.Val47=) c.1176G>A (p.Val392=) c.126G>A (p.Val42=) n.471G>A c.80G>A (p.Trp27Ter) c.75G>A (p.Val25=) c.177G>A (p.Val59=) c.87G>A (p.Val29=) c.78G>A (p.Val26=) | |
3 | g.123352541A>C | CA354222722 | ADCY5 | c.-149T>G (n.-149T>G) c.140T>G (p.Val47Gly) c.1175T>G (p.Val392Gly) c.125T>G (p.Val42Gly) n.470T>G c.79T>G (p.Trp27Gly) c.74T>G (p.Val25Gly) c.176T>G (p.Val59Gly) c.86T>G (p.Val29Gly) c.77T>G (p.Val26Gly) | |
3 | g.123352541A>G | CA354222723 | ADCY5 | c.-149T>C (n.-149T>C) c.140T>C (p.Val47Ala) c.1175T>C (p.Val392Ala) c.125T>C (p.Val42Ala) n.470T>C c.79T>C (p.Trp27Arg) c.74T>C (p.Val25Ala) c.176T>C (p.Val59Ala) c.86T>C (p.Val29Ala) c.77T>C (p.Val26Ala) | |
3 | g.123352541A>T | CA354222724 | ADCY5 | c.-149T>A (n.-149T>A) c.140T>A (p.Val47Glu) c.1175T>A (p.Val392Glu) c.125T>A (p.Val42Glu) n.470T>A c.79T>A (p.Trp27Arg) c.74T>A (p.Val25Glu) c.176T>A (p.Val59Glu) c.86T>A (p.Val29Glu) c.77T>A (p.Val26Glu) | |
3 | g.123352542C>A | CA354222725 | ADCY5 | c.-150G>T (n.-150G>T) c.139G>T (p.Val47Leu) c.1174G>T (p.Val392Leu) c.124G>T (p.Val42Leu) n.469G>T c.78G>T (p.Ser26=) c.73G>T (p.Val25Leu) c.175G>T (p.Val59Leu) c.85G>T (p.Val29Leu) c.76G>T (p.Val26Leu) | dbSNP |
3 | g.123352542C= | CA1398358785 | ADCY5 | c.-150G= (n.-150G=) c.139G= (p.Val47=) c.1174G= (p.Val392=) c.124G= (p.Val42=) n.469G= c.78G= (p.Ser26=) c.73G= (p.Val25=) c.175G= (p.Val59=) c.85G= (p.Val29=) c.76G= (p.Val26=) | |
3 | g.123352542C>G | CA2577532 | ADCY5 | c.-150G>C (n.-150G>C) c.139G>C (p.Val47Leu) c.1174G>C (p.Val392Leu) c.124G>C (p.Val42Leu) n.469G>C c.78G>C (p.Ser26=) c.73G>C (p.Val25Leu) c.175G>C (p.Val59Leu) c.85G>C (p.Val29Leu) c.76G>C (p.Val26Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123352542C>T | CA2577531 | ADCY5 | c.-150G>A (n.-150G>A) c.139G>A (p.Val47Met) c.1174G>A (p.Val392Met) c.124G>A (p.Val42Met) n.469G>A c.78G>A (p.Ser26=) c.73G>A (p.Val25Met) c.175G>A (p.Val59Met) c.85G>A (p.Val29Met) c.76G>A (p.Val26Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123352543G>A | CA2577533 | ADCY5 | c.-151C>T (n.-151C>T) c.138C>T (p.Ile46=) c.1173C>T (p.Ile391=) c.123C>T (p.Ile41=) n.468C>T c.77C>T (p.Ser26Leu) c.72C>T (p.Ile24=) c.174C>T (p.Ile58=) c.84C>T (p.Ile28=) c.75C>T (p.Ile25=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
3 | g.123352543G>C | CA354222726 | ADCY5 | c.-151C>G (n.-151C>G) c.138C>G (p.Ile46Met) c.1173C>G (p.Ile391Met) c.123C>G (p.Ile41Met) n.468C>G c.77C>G (p.Ser26Trp) c.72C>G (p.Ile24Met) c.174C>G (p.Ile58Met) c.84C>G (p.Ile28Met) c.75C>G (p.Ile25Met) | dbSNP gnomAD v3 gnomAD v4 |
3 | g.123352543G= | CA1398358786 | ADCY5 | c.-151C= (n.-151C=) c.138C= (p.Ile46=) c.1173C= (p.Ile391=) c.123C= (p.Ile41=) n.468C= c.77C= (p.Ser26=) c.72C= (p.Ile24=) c.174C= (p.Ile58=) c.84C= (p.Ile28=) c.75C= (p.Ile25=) | |
3 | g.123352543G>T | CA435296553 | ADCY5 | c.-151C>A (n.-151C>A) c.138C>A (p.Ile46=) c.1173C>A (p.Ile391=) c.123C>A (p.Ile41=) n.468C>A c.77C>A (p.Ser26Ter) c.72C>A (p.Ile24=) c.174C>A (p.Ile58=) c.84C>A (p.Ile28=) c.75C>A (p.Ile25=) | |
3 | g.123352544del | CA2667300402 | ADCY5 | c.-152del (n.-152del) c.137del (p.Ile46ThrfsTer?) c.1172del (p.Ile391ThrfsTer?) c.122del (p.Ile41ThrfsTer?) n.467del c.76del (p.Ser26ArgfsTer10) c.71del (p.Ile24ThrfsTer?) c.173del (p.Ile58ThrfsTer?) c.83del (p.Ile28ThrfsTer?) c.74del (p.Ile25ThrfsTer?) | gnomAD v4 |
3 | g.123352544A>C | CA354222727 | ADCY5 | c.-152T>G (n.-152T>G) c.137T>G (p.Ile46Ser) c.1172T>G (p.Ile391Ser) c.122T>G (p.Ile41Ser) n.467T>G c.76T>G (p.Ser26Ala) c.71T>G (p.Ile24Ser) c.173T>G (p.Ile58Ser) c.83T>G (p.Ile28Ser) c.74T>G (p.Ile25Ser) | |
3 | g.123352544A>G | CA354222728 | ADCY5 | c.-152T>C (n.-152T>C) c.137T>C (p.Ile46Thr) c.1172T>C (p.Ile391Thr) c.122T>C (p.Ile41Thr) n.467T>C c.76T>C (p.Ser26Pro) c.71T>C (p.Ile24Thr) c.173T>C (p.Ile58Thr) c.83T>C (p.Ile28Thr) c.74T>C (p.Ile25Thr) | |
3 | g.123352544A>T | CA354222729 | ADCY5 | c.-152T>A (n.-152T>A) c.137T>A (p.Ile46Asn) c.1172T>A (p.Ile391Asn) c.122T>A (p.Ile41Asn) n.467T>A c.76T>A (p.Ser26Thr) c.71T>A (p.Ile24Asn) c.173T>A (p.Ile58Asn) c.83T>A (p.Ile28Asn) c.74T>A (p.Ile25Asn) | |
3 | g.123352545T>A | CA354222730 | ADCY5 | c.-153A>T (n.-153A>T) c.136A>T (p.Ile46Phe) c.1171A>T (p.Ile391Phe) c.121A>T (p.Ile41Phe) n.466A>T c.75A>T (p.Thr25=) c.70A>T (p.Ile24Phe) c.172A>T (p.Ile58Phe) c.82A>T (p.Ile28Phe) c.73A>T (p.Ile25Phe) | |
3 | g.123352545T>C | CA2577534 | ADCY5 | c.-153A>G (n.-153A>G) c.136A>G (p.Ile46Val) c.1171A>G (p.Ile391Val) c.121A>G (p.Ile41Val) n.466A>G c.75A>G (p.Thr25=) c.70A>G (p.Ile24Val) c.172A>G (p.Ile58Val) c.82A>G (p.Ile28Val) c.73A>G (p.Ile25Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.123352545T>G | CA354222731 | ADCY5 | c.-153A>C (n.-153A>C) c.136A>C (p.Ile46Leu) c.1171A>C (p.Ile391Leu) c.121A>C (p.Ile41Leu) n.466A>C c.75A>C (p.Thr25=) c.70A>C (p.Ile24Leu) c.172A>C (p.Ile58Leu) c.82A>C (p.Ile28Leu) c.73A>C (p.Ile25Leu) | |
3 | g.123352545T= | CA1398358787 | ADCY5 | c.-153A= (n.-153A=) c.136A= (p.Ile46=) c.1171A= (p.Ile391=) c.121A= (p.Ile41=) n.466A= c.75A= (p.Thr25=) c.70A= (p.Ile24=) c.172A= (p.Ile58=) c.82A= (p.Ile28=) c.73A= (p.Ile25=) | |
3 | g.123352546G>A | CA435296562 | ADCY5 | c.-154C>T (n.-154C>T) c.135C>T (p.Asn45=) c.1170C>T (p.Asn390=) c.120C>T (p.Asn40=) n.465C>T c.74C>T (p.Thr25Ile) c.69C>T (p.Asn23=) c.171C>T (p.Asn57=) c.81C>T (p.Asn27=) c.72C>T (p.Asn24=) | ClinVar gnomAD v4 |
3 | g.123352546G>C | CA2577535 | ADCY5 | c.-154C>G (n.-154C>G) c.135C>G (p.Asn45Lys) c.1170C>G (p.Asn390Lys) c.120C>G (p.Asn40Lys) n.465C>G c.74C>G (p.Thr25Arg) c.69C>G (p.Asn23Lys) c.171C>G (p.Asn57Lys) c.81C>G (p.Asn27Lys) c.72C>G (p.Asn24Lys) | dbSNP ExAC gnomAD v3 gnomAD v4 |
3 | g.123352546G= | CA1398358788 | ADCY5 | c.-154C= (n.-154C=) c.135C= (p.Asn45=) c.1170C= (p.Asn390=) c.120C= (p.Asn40=) n.465C= c.74C= (p.Thr25=) c.69C= (p.Asn23=) c.171C= (p.Asn57=) c.81C= (p.Asn27=) c.72C= (p.Asn24=) | |
3 | g.123352546G>T | CA354222732 | ADCY5 | c.-154C>A (n.-154C>A) c.135C>A (p.Asn45Lys) c.1170C>A (p.Asn390Lys) c.120C>A (p.Asn40Lys) n.465C>A c.74C>A (p.Thr25Lys) c.69C>A (p.Asn23Lys) c.171C>A (p.Asn57Lys) c.81C>A (p.Asn27Lys) c.72C>A (p.Asn24Lys) | |
3 | g.123352547T>A | CA354222733 | ADCY5 | c.-155A>T (n.-155A>T) c.134A>T (p.Asn45Ile) c.1169A>T (p.Asn390Ile) c.119A>T (p.Asn40Ile) n.464A>T c.73A>T (p.Thr25Ser) c.68A>T (p.Asn23Ile) c.170A>T (p.Asn57Ile) c.80A>T (p.Asn27Ile) c.71A>T (p.Asn24Ile) | |
3 | g.123352547T>C | CA354222734 | ADCY5 | c.-155A>G (n.-155A>G) c.134A>G (p.Asn45Ser) c.1169A>G (p.Asn390Ser) c.119A>G (p.Asn40Ser) n.464A>G c.73A>G (p.Thr25Ala) c.68A>G (p.Asn23Ser) c.170A>G (p.Asn57Ser) c.80A>G (p.Asn27Ser) c.71A>G (p.Asn24Ser) | gnomAD v4 |
3 | g.123352547T>G | CA354222735 | ADCY5 | c.-155A>C (n.-155A>C) c.134A>C (p.Asn45Thr) c.1169A>C (p.Asn390Thr) c.119A>C (p.Asn40Thr) n.464A>C c.73A>C (p.Thr25Pro) c.68A>C (p.Asn23Thr) c.170A>C (p.Asn57Thr) c.80A>C (p.Asn27Thr) c.71A>C (p.Asn24Thr) | |
3 | g.123352548T>A | CA354222736 | ADCY5 | c.-156A>T (n.-156A>T) c.133A>T (p.Asn45Tyr) c.1168A>T (p.Asn390Tyr) c.118A>T (p.Asn40Tyr) n.463A>T c.72A>T (p.Pro24=) c.67A>T (p.Asn23Tyr) c.169A>T (p.Asn57Tyr) c.79A>T (p.Asn27Tyr) c.70A>T (p.Asn24Tyr) | |
3 | g.123352548T>C | CA354222738 | ADCY5 | c.-156A>G (n.-156A>G) c.133A>G (p.Asn45Asp) c.1168A>G (p.Asn390Asp) c.118A>G (p.Asn40Asp) n.463A>G c.72A>G (p.Pro24=) c.67A>G (p.Asn23Asp) c.169A>G (p.Asn57Asp) c.79A>G (p.Asn27Asp) c.70A>G (p.Asn24Asp) | |
3 | g.123352548T>G | CA354222737 | ADCY5 | c.-156A>C (n.-156A>C) c.133A>C (p.Asn45His) c.1168A>C (p.Asn390His) c.118A>C (p.Asn40His) n.463A>C c.72A>C (p.Pro24=) c.67A>C (p.Asn23His) c.169A>C (p.Asn57His) c.79A>C (p.Asn27His) c.70A>C (p.Asn24His) | |
3 | g.123352549G>A | CA435296568 | ADCY5 | c.-157C>T (n.-157C>T) c.132C>T (p.Thr44=) c.1167C>T (p.Thr389=) c.117C>T (p.Thr39=) n.462C>T c.71C>T (p.Pro24Leu) c.66C>T (p.Thr22=) c.168C>T (p.Thr56=) c.78C>T (p.Thr26=) c.69C>T (p.Thr23=) | |
3 | g.123352549G>C | CA435296570 | ADCY5 | c.-157C>G (n.-157C>G) c.132C>G (p.Thr44=) c.1167C>G (p.Thr389=) c.117C>G (p.Thr39=) n.462C>G c.71C>G (p.Pro24Arg) c.66C>G (p.Thr22=) c.168C>G (p.Thr56=) c.78C>G (p.Thr26=) c.69C>G (p.Thr23=) | |
3 | g.123352549G>T | CA435296572 | ADCY5 | c.-157C>A (n.-157C>A) c.132C>A (p.Thr44=) c.1167C>A (p.Thr389=) c.117C>A (p.Thr39=) n.462C>A c.71C>A (p.Pro24Gln) c.66C>A (p.Thr22=) c.168C>A (p.Thr56=) c.78C>A (p.Thr26=) c.69C>A (p.Thr23=) | |
3 | g.123352550G>A | CA354222739 | ADCY5 | c.-158C>T (n.-158C>T) c.131C>T (p.Thr44Ile) c.1166C>T (p.Thr389Ile) c.116C>T (p.Thr39Ile) n.461C>T c.70C>T (p.Pro24Ser) c.65C>T (p.Thr22Ile) c.167C>T (p.Thr56Ile) c.77C>T (p.Thr26Ile) c.68C>T (p.Thr23Ile) | |
3 | g.123352550G>C | CA354222740 | ADCY5 | c.-158C>G (n.-158C>G) c.131C>G (p.Thr44Ser) c.1166C>G (p.Thr389Ser) c.116C>G (p.Thr39Ser) n.461C>G c.70C>G (p.Pro24Ala) c.65C>G (p.Thr22Ser) c.167C>G (p.Thr56Ser) c.77C>G (p.Thr26Ser) c.68C>G (p.Thr23Ser) | |
3 | g.123352550G>T | CA354222741 | ADCY5 | c.-158C>A (n.-158C>A) c.131C>A (p.Thr44Asn) c.1166C>A (p.Thr389Asn) c.116C>A (p.Thr39Asn) n.461C>A c.70C>A (p.Pro24Thr) c.65C>A (p.Thr22Asn) c.167C>A (p.Thr56Asn) c.77C>A (p.Thr26Asn) c.68C>A (p.Thr23Asn) | |
3 | g.123352551T>A | CA354222742 | ADCY5 | c.-159A>T (n.-159A>T) c.130A>T (p.Thr44Ser) c.1165A>T (p.Thr389Ser) c.115A>T (p.Thr39Ser) n.460A>T c.69A>T (p.Ala23=) c.64A>T (p.Thr22Ser) c.166A>T (p.Thr56Ser) c.76A>T (p.Thr26Ser) c.67A>T (p.Thr23Ser) | |
3 | g.123352551T>C | CA354222743 | ADCY5 | c.-159A>G (n.-159A>G) c.130A>G (p.Thr44Ala) c.1165A>G (p.Thr389Ala) c.115A>G (p.Thr39Ala) n.460A>G c.69A>G (p.Ala23=) c.64A>G (p.Thr22Ala) c.166A>G (p.Thr56Ala) c.76A>G (p.Thr26Ala) c.67A>G (p.Thr23Ala) | |
3 | g.123352551T>G | CA354222744 | ADCY5 | c.-159A>C (n.-159A>C) c.130A>C (p.Thr44Pro) c.1165A>C (p.Thr389Pro) c.115A>C (p.Thr39Pro) n.460A>C c.69A>C (p.Ala23=) c.64A>C (p.Thr22Pro) c.166A>C (p.Thr56Pro) c.76A>C (p.Thr26Pro) c.67A>C (p.Thr23Pro) | |
3 | g.123352552G>A | CA435296577 | ADCY5 | c.-160C>T (n.-160C>T) c.129C>T (p.Cys43=) c.1164C>T (p.Cys388=) c.114C>T (p.Cys38=) n.459C>T c.68C>T (p.Ala23Val) c.63C>T (p.Cys21=) c.165C>T (p.Cys55=) c.75C>T (p.Cys25=) c.66C>T (p.Cys22=) | gnomAD v4 |
3 | g.123352552G>C | CA354222745 | ADCY5 | c.-160C>G (n.-160C>G) c.129C>G (p.Cys43Trp) c.1164C>G (p.Cys388Trp) c.114C>G (p.Cys38Trp) n.459C>G c.68C>G (p.Ala23Gly) c.63C>G (p.Cys21Trp) c.165C>G (p.Cys55Trp) c.75C>G (p.Cys25Trp) c.66C>G (p.Cys22Trp) | |
3 | g.123352552G= | CA1398358789 | ADCY5 | c.-160C= (n.-160C=) c.129C= (p.Cys43=) c.1164C= (p.Cys388=) c.114C= (p.Cys38=) n.459C= c.68C= (p.Ala23=) c.63C= (p.Cys21=) c.165C= (p.Cys55=) c.75C= (p.Cys25=) c.66C= (p.Cys22=) | |
3 | g.123352552G>T | CA354222746 | ADCY5 | c.-160C>A (n.-160C>A) c.129C>A (p.Cys43Ter) c.1164C>A (p.Cys388Ter) c.114C>A (p.Cys38Ter) n.459C>A c.68C>A (p.Ala23Glu) c.63C>A (p.Cys21Ter) c.165C>A (p.Cys55Ter) c.75C>A (p.Cys25Ter) c.66C>A (p.Cys22Ter) | dbSNP |
3 | g.123352552_123352553insTCGCAACGCGCCACTCAGAAAATCCTCGACGGCATTGCCGCAAGCCGTTCCGTCCCCTTCGAGCGGGTACTCTTCGCTTTGGGTATCCGCTTTGTCGGCAAGGTGGCGGCCAAAAATCTGGCCCGTCATTT | CA2569246076 | ADCY5 | c.-161_-160insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (n.-161_-160insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA) c.128_129insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (p.Cys43Ter) c.1163_1164insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (p.Cys388Ter) c.113_114insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (p.Cys38Ter) n.458_459insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA c.67_68insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (p.Ala23GlufsTer57) c.62_63insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (p.Cys21Ter) c.164_165insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (p.Cys55Ter) c.74_75insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (p.Cys25Ter) c.65_66insAAATGACGGGCCAGATTTTTGGCCGCCACCTTGCCGACAAAGCGGATACCCAAAGCGAAGAGTACCCGCTCGAAGGGGACGGAACGGCTTGCGGCAATGCCGTCGAGGATTTTCTGAGTGGCGCGTTGCGA (p.Cys22Ter) | |
3 | g.123352553C>A | CA354222747 | ADCY5 | c.-161G>T (n.-161G>T) c.128G>T (p.Cys43Phe) c.1163G>T (p.Cys388Phe) c.113G>T (p.Cys38Phe) n.458G>T c.67G>T (p.Ala23Ser) c.62G>T (p.Cys21Phe) c.164G>T (p.Cys55Phe) c.74G>T (p.Cys25Phe) c.65G>T (p.Cys22Phe) | |
3 | g.123352553C>G | CA354222748 | ADCY5 | c.-161G>C (n.-161G>C) c.128G>C (p.Cys43Ser) c.1163G>C (p.Cys388Ser) c.113G>C (p.Cys38Ser) n.458G>C c.67G>C (p.Ala23Pro) c.62G>C (p.Cys21Ser) c.164G>C (p.Cys55Ser) c.74G>C (p.Cys25Ser) c.65G>C (p.Cys22Ser) | |
3 | g.123352553C>T | CA354222749 | ADCY5 | c.-161G>A (n.-161G>A) c.128G>A (p.Cys43Tyr) c.1163G>A (p.Cys388Tyr) c.113G>A (p.Cys38Tyr) n.458G>A c.67G>A (p.Ala23Thr) c.62G>A (p.Cys21Tyr) c.164G>A (p.Cys55Tyr) c.74G>A (p.Cys25Tyr) c.65G>A (p.Cys22Tyr) | |
3 | g.123352554A>C | CA354222752 | ADCY5 | c.-162T>G (n.-162T>G) c.127T>G (p.Cys43Gly) c.1162T>G (p.Cys388Gly) c.112T>G (p.Cys38Gly) n.457T>G c.66T>G (p.Pro22=) c.61T>G (p.Cys21Gly) c.163T>G (p.Cys55Gly) c.73T>G (p.Cys25Gly) c.64T>G (p.Cys22Gly) | |
3 | g.123352554A>G | CA354222751 | ADCY5 | c.-162T>C (n.-162T>C) c.127T>C (p.Cys43Arg) c.1162T>C (p.Cys388Arg) c.112T>C (p.Cys38Arg) n.457T>C c.66T>C (p.Pro22=) c.61T>C (p.Cys21Arg) c.163T>C (p.Cys55Arg) c.73T>C (p.Cys25Arg) c.64T>C (p.Cys22Arg) | |
3 | g.123352554A>T | CA354222750 | ADCY5 | c.-162T>A (n.-162T>A) c.127T>A (p.Cys43Ser) c.1162T>A (p.Cys388Ser) c.112T>A (p.Cys38Ser) n.457T>A c.66T>A (p.Pro22=) c.61T>A (p.Cys21Ser) c.163T>A (p.Cys55Ser) c.73T>A (p.Cys25Ser) c.64T>A (p.Cys22Ser) | |
3 | g.123352555G>A | CA82918334 | ADCY5 | c.-163C>T (n.-163C>T) c.126C>T (p.Ser42=) c.1161C>T (p.Ser387=) c.111C>T (p.Ser37=) n.456C>T c.65C>T (p.Pro22Leu) c.60C>T (p.Ser20=) c.162C>T (p.Ser54=) c.72C>T (p.Ser24=) c.63C>T (p.Ser21=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
3 | g.123352555G>C | CA435296584 | ADCY5 | c.-163C>G (n.-163C>G) c.126C>G (p.Ser42=) c.1161C>G (p.Ser387=) c.111C>G (p.Ser37=) n.456C>G c.65C>G (p.Pro22Arg) c.60C>G (p.Ser20=) c.162C>G (p.Ser54=) c.72C>G (p.Ser24=) c.63C>G (p.Ser21=) | |
3 | g.123352555G= | CA1398358790 | ADCY5 | c.-163C= (n.-163C=) c.126C= (p.Ser42=) c.1161C= (p.Ser387=) c.111C= (p.Ser37=) n.456C= c.65C= (p.Pro22=) c.60C= (p.Ser20=) c.162C= (p.Ser54=) c.72C= (p.Ser24=) c.63C= (p.Ser21=) | |
3 | g.123352555G>T | CA435296586 | ADCY5 | c.-163C>A (n.-163C>A) c.126C>A (p.Ser42=) c.1161C>A (p.Ser387=) c.111C>A (p.Ser37=) n.456C>A c.65C>A (p.Pro22His) c.60C>A (p.Ser20=) c.162C>A (p.Ser54=) c.72C>A (p.Ser24=) c.63C>A (p.Ser21=) | |
3 | g.123352556G>A | CA354222753 | ADCY5 | c.-164C>T (n.-164C>T) c.125C>T (p.Ser42Phe) c.1160C>T (p.Ser387Phe) c.110C>T (p.Ser37Phe) n.455C>T c.64C>T (p.Pro22Ser) c.59C>T (p.Ser20Phe) c.161C>T (p.Ser54Phe) c.71C>T (p.Ser24Phe) c.62C>T (p.Ser21Phe) | |
3 | g.123352556G>C | CA354222754 | ADCY5 | c.-164C>G (n.-164C>G) c.125C>G (p.Ser42Cys) c.1160C>G (p.Ser387Cys) c.110C>G (p.Ser37Cys) n.455C>G c.64C>G (p.Pro22Ala) c.59C>G (p.Ser20Cys) c.161C>G (p.Ser54Cys) c.71C>G (p.Ser24Cys) c.62C>G (p.Ser21Cys) | |
3 | g.123352556G>T | CA354222755 | ADCY5 | c.-164C>A (n.-164C>A) c.125C>A (p.Ser42Tyr) c.1160C>A (p.Ser387Tyr) c.110C>A (p.Ser37Tyr) n.455C>A c.64C>A (p.Pro22Thr) c.59C>A (p.Ser20Tyr) c.161C>A (p.Ser54Tyr) c.71C>A (p.Ser24Tyr) c.62C>A (p.Ser21Tyr) | |
3 | g.123352557A>C | CA354222756 | ADCY5 | c.-165T>G (n.-165T>G) c.124T>G (p.Ser42Ala) c.1159T>G (p.Ser387Ala) c.109T>G (p.Ser37Ala) n.454T>G c.63T>G (p.Ser21=) c.58T>G (p.Ser20Ala) c.160T>G (p.Ser54Ala) c.70T>G (p.Ser24Ala) c.61T>G (p.Ser21Ala) | |
3 | g.123352557A>G | CA354222757 | ADCY5 | c.-165T>C (n.-165T>C) c.124T>C (p.Ser42Pro) c.1159T>C (p.Ser387Pro) c.109T>C (p.Ser37Pro) n.454T>C c.63T>C (p.Ser21=) c.58T>C (p.Ser20Pro) c.160T>C (p.Ser54Pro) c.70T>C (p.Ser24Pro) c.61T>C (p.Ser21Pro) | |
3 | g.123352557A>T | CA354222758 | ADCY5 | c.-165T>A (n.-165T>A) c.124T>A (p.Ser42Thr) c.1159T>A (p.Ser387Thr) c.109T>A (p.Ser37Thr) n.454T>A c.63T>A (p.Ser21=) c.58T>A (p.Ser20Thr) c.160T>A (p.Ser54Thr) c.70T>A (p.Ser24Thr) c.61T>A (p.Ser21Thr) | |
3 | g.123352558G>A | CA435296591 | ADCY5 | c.-166C>T (n.-166C>T) c.123C>T (p.Phe41=) c.1158C>T (p.Phe386=) c.108C>T (p.Phe36=) n.453C>T c.62C>T (p.Ser21Phe) c.57C>T (p.Phe19=) c.159C>T (p.Phe53=) c.69C>T (p.Phe23=) c.60C>T (p.Phe20=) | |
3 | g.123352558G>C | CA354222759 | ADCY5 | c.-166C>G (n.-166C>G) c.123C>G (p.Phe41Leu) c.1158C>G (p.Phe386Leu) c.108C>G (p.Phe36Leu) n.453C>G c.62C>G (p.Ser21Cys) c.57C>G (p.Phe19Leu) c.159C>G (p.Phe53Leu) c.69C>G (p.Phe23Leu) c.60C>G (p.Phe20Leu) | |
3 | g.123352558G>T | CA354222760 | ADCY5 | c.-166C>A (n.-166C>A) c.123C>A (p.Phe41Leu) c.1158C>A (p.Phe386Leu) c.108C>A (p.Phe36Leu) n.453C>A c.62C>A (p.Ser21Tyr) c.57C>A (p.Phe19Leu) c.159C>A (p.Phe53Leu) c.69C>A (p.Phe23Leu) c.60C>A (p.Phe20Leu) | |
3 | g.123352559A= | CA1398358791 | ADCY5 | c.-167T= (n.-167T=) c.122T= (p.Phe41=) c.1157T= (p.Phe386=) c.107T= (p.Phe36=) n.452T= c.61T= (p.Ser21=) c.56T= (p.Phe19=) c.158T= (p.Phe53=) c.68T= (p.Phe23=) c.59T= (p.Phe20=) | |
3 | g.123352559A>C | CA354222761 | ADCY5 | c.-167T>G (n.-167T>G) c.122T>G (p.Phe41Cys) c.1157T>G (p.Phe386Cys) c.107T>G (p.Phe36Cys) n.452T>G c.61T>G (p.Ser21Ala) c.56T>G (p.Phe19Cys) c.158T>G (p.Phe53Cys) c.68T>G (p.Phe23Cys) c.59T>G (p.Phe20Cys) | dbSNP gnomAD v4 |
3 | g.123352559A>G | CA354222762 | ADCY5 | c.-167T>C (n.-167T>C) c.122T>C (p.Phe41Ser) c.1157T>C (p.Phe386Ser) c.107T>C (p.Phe36Ser) n.452T>C c.61T>C (p.Ser21Pro) c.56T>C (p.Phe19Ser) c.158T>C (p.Phe53Ser) c.68T>C (p.Phe23Ser) c.59T>C (p.Phe20Ser) | |
3 | g.123352559A>T | CA354222763 | ADCY5 | c.-167T>A (n.-167T>A) c.122T>A (p.Phe41Tyr) c.1157T>A (p.Phe386Tyr) c.107T>A (p.Phe36Tyr) n.452T>A c.61T>A (p.Ser21Thr) c.56T>A (p.Phe19Tyr) c.158T>A (p.Phe53Tyr) c.68T>A (p.Phe23Tyr) c.59T>A (p.Phe20Tyr) | |
3 | g.123352560A>C | CA354222766 | ADCY5 | c.-168T>G (n.-168T>G) c.121T>G (p.Phe41Val) c.1156T>G (p.Phe386Val) c.106T>G (p.Phe36Val) n.451T>G c.60T>G (p.Phe20Leu) c.55T>G (p.Phe19Val) c.157T>G (p.Phe53Val) c.67T>G (p.Phe23Val) c.58T>G (p.Phe20Val) | |
3 | g.123352560A>G | CA354222765 | ADCY5 | c.-168T>C (n.-168T>C) c.121T>C (p.Phe41Leu) c.1156T>C (p.Phe386Leu) c.106T>C (p.Phe36Leu) n.451T>C c.60T>C (p.Phe20=) c.55T>C (p.Phe19Leu) c.157T>C (p.Phe53Leu) c.67T>C (p.Phe23Leu) c.58T>C (p.Phe20Leu) | gnomAD v4 |
3 | g.123352560A>T | CA354222764 | ADCY5 | c.-168T>A (n.-168T>A) c.121T>A (p.Phe41Ile) c.1156T>A (p.Phe386Ile) c.106T>A (p.Phe36Ile) n.451T>A c.60T>A (p.Phe20Leu) c.55T>A (p.Phe19Ile) c.157T>A (p.Phe53Ile) c.67T>A (p.Phe23Ile) c.58T>A (p.Phe20Ile) | |
3 | g.123352561A>C | CA354222767 | ADCY5 | c.-169T>G (n.-169T>G) c.120T>G (p.Ile40Met) c.1155T>G (p.Ile385Met) c.105T>G (p.Ile35Met) n.450T>G c.59T>G (p.Phe20Cys) c.54T>G (p.Ile18Met) c.156T>G (p.Ile52Met) c.66T>G (p.Ile22Met) c.57T>G (p.Ile19Met) | |
3 | g.123352561A>G | CA435296597 | ADCY5 | c.-169T>C (n.-169T>C) c.120T>C (p.Ile40=) c.1155T>C (p.Ile385=) c.105T>C (p.Ile35=) n.450T>C c.59T>C (p.Phe20Ser) c.54T>C (p.Ile18=) c.156T>C (p.Ile52=) c.66T>C (p.Ile22=) c.57T>C (p.Ile19=) | |
3 | g.123352561A>T | CA435296598 | ADCY5 | c.-169T>A (n.-169T>A) c.120T>A (p.Ile40=) c.1155T>A (p.Ile385=) c.105T>A (p.Ile35=) n.450T>A c.59T>A (p.Phe20Tyr) c.54T>A (p.Ile18=) c.156T>A (p.Ile52=) c.66T>A (p.Ile22=) c.57T>A (p.Ile19=) | |
3 | g.123352562A>C | CA354222768 | ADCY5 | c.-170T>G (n.-170T>G) c.119T>G (p.Ile40Ser) c.1154T>G (p.Ile385Ser) c.104T>G (p.Ile35Ser) n.449T>G c.58T>G (p.Phe20Val) c.53T>G (p.Ile18Ser) c.155T>G (p.Ile52Ser) c.65T>G (p.Ile22Ser) c.56T>G (p.Ile19Ser) | |
3 | g.123352562A>G | CA354222769 | ADCY5 | c.-170T>C (n.-170T>C) c.119T>C (p.Ile40Thr) c.1154T>C (p.Ile385Thr) c.104T>C (p.Ile35Thr) n.449T>C c.58T>C (p.Phe20Leu) c.53T>C (p.Ile18Thr) c.155T>C (p.Ile52Thr) c.65T>C (p.Ile22Thr) c.56T>C (p.Ile19Thr) | |
3 | g.123352562A>T | CA354222770 | ADCY5 | c.-170T>A (n.-170T>A) c.119T>A (p.Ile40Asn) c.1154T>A (p.Ile385Asn) c.104T>A (p.Ile35Asn) n.449T>A c.58T>A (p.Phe20Ile) c.53T>A (p.Ile18Asn) c.155T>A (p.Ile52Asn) c.65T>A (p.Ile22Asn) c.56T>A (p.Ile19Asn) | |
3 | g.123352563T>A | CA354222771 | ADCY5 | c.-171A>T (n.-171A>T) c.118A>T (p.Ile40Phe) c.1153A>T (p.Ile385Phe) c.103A>T (p.Ile35Phe) n.448A>T c.57A>T (p.Ser19=) c.52A>T (p.Ile18Phe) c.154A>T (p.Ile52Phe) c.64A>T (p.Ile22Phe) c.55A>T (p.Ile19Phe) | |
3 | g.123352563T>C | CA354222772 | ADCY5 | c.-171A>G (n.-171A>G) c.118A>G (p.Ile40Val) c.1153A>G (p.Ile385Val) c.103A>G (p.Ile35Val) n.448A>G c.57A>G (p.Ser19=) c.52A>G (p.Ile18Val) c.154A>G (p.Ile52Val) c.64A>G (p.Ile22Val) c.55A>G (p.Ile19Val) | |
3 | g.123352563T>G | CA354222773 | ADCY5 | c.-171A>C (n.-171A>C) c.118A>C (p.Ile40Leu) c.1153A>C (p.Ile385Leu) c.103A>C (p.Ile35Leu) n.448A>C c.57A>C (p.Ser19=) c.52A>C (p.Ile18Leu) c.154A>C (p.Ile52Leu) c.64A>C (p.Ile22Leu) c.55A>C (p.Ile19Leu) | |
3 | g.123352564G>A | CA435296603 | ADCY5 | c.-172C>T (n.-172C>T) c.117C>T (p.Leu39=) c.1152C>T (p.Leu384=) c.102C>T (p.Leu34=) n.447C>T c.56C>T (p.Ser19Leu) c.51C>T (p.Leu17=) c.153C>T (p.Leu51=) c.63C>T (p.Leu21=) c.54C>T (p.Leu18=) | dbSNP gnomAD v2 gnomAD v4 |
3 | g.123352564G>C | CA435296605 | ADCY5 | c.-172C>G (n.-172C>G) c.117C>G (p.Leu39=) c.1152C>G (p.Leu384=) c.102C>G (p.Leu34=) n.447C>G c.56C>G (p.Ser19Ter) c.51C>G (p.Leu17=) c.153C>G (p.Leu51=) c.63C>G (p.Leu21=) c.54C>G (p.Leu18=) | |
3 | g.123352564G= | CA1398358792 | ADCY5 | c.-172C= (n.-172C=) c.117C= (p.Leu39=) c.1152C= (p.Leu384=) c.102C= (p.Leu34=) n.447C= c.56C= (p.Ser19=) c.51C= (p.Leu17=) c.153C= (p.Leu51=) c.63C= (p.Leu21=) c.54C= (p.Leu18=) | |
3 | g.123352564G>T | CA435296606 | ADCY5 | c.-172C>A (n.-172C>A) c.117C>A (p.Leu39=) c.1152C>A (p.Leu384=) c.102C>A (p.Leu34=) n.447C>A c.56C>A (p.Ser19Ter) c.51C>A (p.Leu17=) c.153C>A (p.Leu51=) c.63C>A (p.Leu21=) c.54C>A (p.Leu18=) |